Hudson Freeze

Title(s)Adjunct Professor, Medicine
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Collapse Research 
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    New Congenital Disorders of Glycosylation: Therapy and Models
    NIH R01DK099551May 1, 2014 - Jun 30, 2023
    Role: Principal Investigator
    An Expanded Spectrum for Congenital Disorders of Glycosylation
    NIH R21HD076358Aug 1, 2013 - Jul 31, 2015
    Role: Principal Investigator
    Novel Therapy for a Human Glycosylation Disorder
    NIH R21HD062914Apr 15, 2010 - Mar 31, 2012
    Role: Principal Investigator
    Testing Substrate-Flux Therapies for Glycosylation Disorders using Zebrafish
    NIH RC1HD064159Sep 30, 2009 - Aug 31, 2012
    Role: Principal Investigator
    Factors Determining Protein Losing Enteropathy
    NIH R01HL086987Apr 1, 2009 - Sep 30, 2013
    Role: Principal Investigator
    Therapeutic Inhibitors of Phosphomannose Isomerase
    NIH R03MH082386Jan 15, 2008 - Jan 31, 2010
    Role: Principal Investigator
    Basis of Post-Fontan Protein Losing Enteropathy
    NIH R21HL078997Dec 15, 2004 - Nov 30, 2007
    Role: Principal Investigator
    Human Glycosylation Disorders 2003
    NIH R13DK067195Mar 5, 2004 - Feb 28, 2005
    Role: Principal Investigator
    Novel Approaches to Mend Deficient Glycosylation
    NIH R01DK065091Aug 1, 2003 - May 31, 2007
    Role: Principal Investigator
    Novel Carboxylated Glycans in Cell Adhesion
    NIH R01CA092608Jul 1, 2002 - Jun 30, 2008
    Role: Principal Investigator
    Novel Carboxylated N-Glycans that Mediate Inflammation
    NIH R21GM065323Apr 1, 2002 - Mar 31, 2005
    Role: Principal Investigator
    CONGENITAL DISORDERS OF GLYCOSYLATION 2000
    NIH R13DK058995Sep 30, 2000 - Sep 29, 2001
    Role: Principal Investigator
    Carbohydrate Deficient Glycoprotein Syndromes: Models and Therapy
    NIH R01DK055615Aug 1, 1999 - Mar 31, 2015
    Role: Principal Investigator
    MANNOSE IN MAMMALIAN GLYCOPROTEIN SYNTHESIS
    NIH R01GM055695Feb 1, 1998 - Jan 31, 2003
    Role: Principal Investigator
    GENES OF PHOSPHORYLATED OLIGOSACCHARIDE BIOSYNTHESIS
    NIH R01GM049096Apr 1, 1993 - Mar 31, 1998
    Role: Principal Investigator
    OLIGOSACCHARIDES OF LYSOSOMAL ENZYMES IN SLIME MOLD
    NIH R01GM032485Sep 1, 1983 - Mar 31, 1999
    Role: Principal Investigator

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. J Inherit Metab Dis. 2024 Apr 10. Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M. PMID: 38597022.
      View in: PubMed   Mentions:
    2. A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight. 2024 Apr 08; 9(7). Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. PMID: 38587076.
      View in: PubMed   Mentions:
    3. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205. Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. PMID: 37711075; PMCID: PMC10873070.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    4. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. J Inherit Metab Dis. 2023 11; 46(6):1170-1185. Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. PMID: 37540500; PMCID: PMC10838372.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Metabolic clogging of mannose triggers dNTP loss and genomic instability in human cancer cells. Elife. 2023 07 18; 12. Harada Y, Mizote Y, Suzuki T, Hirayama A, Ikeda S, Nishida M, Hiratsuka T, Ueda A, Imagawa Y, Maeda K, Ohkawa Y, Murai J, Freeze HH, Miyoshi E, Higashiyama S, Udono H, Dohmae N, Tahara H, Taniguchi N. PMID: 37461317; PMCID: PMC10353863.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    6. Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. J Inherit Metab Dis. 2023 03; 46(2):326-334. Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. PMID: 36719165; PMCID: PMC10023375.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    7. Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. J Inherit Metab Dis. 2023 03; 46(2):300-312. Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. PMID: 36651831; PMCID: PMC10047170.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    8. GLUT1 is a highly efficient L-fucose transporter. J Biol Chem. 2023 01; 299(1):102738. Ng BG, Sosicka P, Xia Z, Freeze HH. PMID: 36423686; PMCID: PMC9758431.
      View in: PubMed   Mentions: 2     Fields:    
    9. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. J Med Genet. 2023 07; 60(7):627-635. Mahajan S, Ng BG, AlAbdi L, Earnest PDJ, Sosicka P, Patel N, Helaby R, Abdulwahab F, He M, Alkuraya FS, Freeze HH. PMID: 36357165; PMCID: PMC10169543.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    10. COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells. Front Cell Dev Biol. 2022; 10:979096. Xia ZJ, Mahajan S, Paul Daniel EJ, Ng BG, Saraswat M, Campos AR, Murad R, He M, Freeze HH. PMID: 36393834; PMCID: PMC9649697.
      View in: PubMed   Mentions:
    11. DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. J Inherit Metab Dis. 2023 01; 46(1):92-100. Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M. PMID: 36214423; PMCID: PMC9852036.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    12. Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells. Biochem Biophys Res Commun. 2022 12 03; 632:165-172. Hetz R, Magaway C, Everett J, Li L, Willard BB, Freeze HH, He P. PMID: 36209585; PMCID: PMC9677521.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    13. The Swedish COG6-CDG experience and a comprehensive literature review. JIMD Rep. 2023 Jan; 64(1):79-89. Xia ZJ, Ng BG, Jennions E, Blomqvist M, Sandqvist Wiklund A, Hedberg-Oldfors C, Gonzalez CR, Freeze HH, Ygberg S, Eklund EA. PMID: 36636598; PMCID: PMC9830022.
      View in: PubMed   Mentions: 1  
    14. Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions. J Cell Biol. 2022 10 03; 221(10). Sosicka P, Ng BG, Pepi LE, Shajahan A, Wong M, Scott DA, Matsumoto K, Xia ZJ, Lebrilla CB, Haltiwanger RS, Azadi P, Freeze HH. PMID: 36053214; PMCID: PMC9441714.
      View in: PubMed   Mentions: 3     Fields:    Translation:Cells
    15. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet. 2022 12; 102(6):530-536. Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, Ng BG, Noroozi Asl S, Akhondian J, Bahreini A, Yaghini O, Uapinyoying P, Bonnemann C, Freeze HH, Dissanayake VHW, Sirisena ND, Schmidts M, Houlden H, Moreno-De-Luca A, Maroofian R. PMID: 35932216; PMCID: PMC9633384.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    16. CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. Hum Mol Genet. 2022 08 17; 31(15):2571-2581. Wilson MP, Durin Z, Unal Ö, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gündüz M, Köse G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G. PMID: 35262690; PMCID: PMC9396942.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    17. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. J Med Genet. 2022 Jul 05. Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, UW Center for Mendelian Genomics, Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. PMID: 35790351; PMCID: PMC9813274.
      View in: PubMed   Mentions:    Fields:    
    18. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. J Inherit Metab Dis. 2022 09; 45(5):969-980. Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. PMID: 35716054; PMCID: PMC9474684.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    19. CDG or not CDG. J Inherit Metab Dis. 2022 05; 45(3):383-385. Freeze HH, Jaeken J, Matthijs G. PMID: 35338706; PMCID: PMC9121739.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    20. Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. JCI Insight. 2021 12 22; 6(24). Klaver EJ, Dukes-Rimsky L, Kumar B, Xia ZJ, Dang T, Lehrman MA, Angel P, Drake RR, Freeze HH, Steet R, Flanagan-Steet H. PMID: 34784297; PMCID: PMC8783681.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    21. Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature. Mol Genet Metab Rep. 2022 Mar; 30:100835. Al-Otaibi A, AlAyed A, Al Madhi A, Saeed L, Ng BG, Freeze HH, Almannai M. PMID: 35242569; PMCID: PMC8856910.
      View in: PubMed   Mentions: 1  
    22. Chemical Therapies for Congenital Disorders of Glycosylation. ACS Chem Biol. 2022 Nov 18; 17(11):2962-2971. Sosicka P, Ng BG, Freeze HH. PMID: 34788024; PMCID: PMC9126425.
      View in: PubMed   Mentions: 5     Fields:    Translation:AnimalsCells
    23. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 11 04; 108(11):2130-2144. Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. PMID: 34653363; PMCID: PMC8595932.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    24. Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review. J Pediatr Gastroenterol Nutr. 2021 10 01; 73(4):444-454. Colantuono R, D'Acunto E, Melis D, Vajro P, Freeze HH, Mandato C. PMID: 34173795; PMCID: PMC9255677.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    25. Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. Front Genet. 2021; 12:777731. González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. PMID: 34659374; PMCID: PMC8515999.
      View in: PubMed   Mentions:
    26. A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling. Front Cell Dev Biol. 2021; 9:720688. Xia ZJ, Zeng XI, Tambe M, Ng BG, Dong PDS, Freeze HH. PMID: 34595172; PMCID: PMC8476873.
      View in: PubMed   Mentions: 5  
    27. ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. Front Genet. 2021; 12:744884. González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. PMID: 34567092; PMCID: PMC8458739.
      View in: PubMed   Mentions: 2  
    28. SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy. Clin Chim Acta. 2021 Oct; 521:104-106. Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A. PMID: 34245688; PMCID: PMC9119027.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    29. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. Am J Hum Genet. 2021 06 03; 108(6):1040-1052. Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG), Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. PMID: 33964207; PMCID: PMC8206404.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    30. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis. 2021 07; 44(4):1001-1012. Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. PMID: 33734437; PMCID: PMC8720508.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    31. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis. 2021 07; 44(4):987-1000. Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, University of Washington Center for Mendelian Genomics (UW-CMG), Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. PMID: 33583022; PMCID: PMC8282734.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    32. Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis. J Clin Invest. 2021 03 01; 131(5). Kawanishi K, Saha S, Diaz S, Vaill M, Sasmal A, Siddiqui SS, Choudhury B, Sharma K, Chen X, Schoenhofen IC, Sato C, Kitajima K, Freeze HH, Münster-Kühnel A, Varki A. PMID: 33373330; PMCID: PMC7919724.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    33. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. Orphanet J Rare Dis. 2021 02 25; 16(1):102. Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E. PMID: 33632285; PMCID: PMC7908710.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    34. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia. 2021 02; 62(2):335-336. Berry GT, Freeze HH, Morava E. PMID: 33576051; PMCID: PMC8100982.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    35. Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3. J Biol Chem. 2020 11 27; 295(48):16445-16463. Szulc B, Sosicka P, Maszczak-Seneczko D, Skurska E, Shauchuk A, Olczak T, Freeze HH, Olczak M. PMID: 32938718; PMCID: PMC7705316.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    36. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 01; 44(1):148-163. Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. PMID: 32681750; PMCID: PMC7855268.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    37. MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature. JIMD Rep. 2020 Nov; 56(1):20-26. Abdel Ghaffar TY, Ng BG, Elsayed SM, El Naghi S, Helmy S, Mohammed N, El Hennawy A, Freeze HH. PMID: 33204592; PMCID: PMC7653262.
      View in: PubMed   Mentions: 2  
    38. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348. Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. PMID: 32681751; PMCID: PMC7722193.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    39. A mutation map for human glycoside hydrolase genes. Glycobiology. 2020 07 16; 30(8):500-515. Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP. PMID: 32039448; PMCID: PMC7372926.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    40. Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. J Inherit Metab Dis. 2020 09; 43(5):1037-1045. Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Undiagnosed Diseases Network, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. PMID: 32395830; PMCID: PMC7508799.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    41. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 10; 22(10):1598-1605. Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. PMID: 32461667; PMCID: PMC7521996.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    42. Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells. Cancer Discov. 2020 06; 10(6):822-835. Galenkamp KMO, Sosicka P, Jung M, Recouvreux MV, Zhang Y, Moldenhauer MR, Brandi G, Freeze HH, Commisso C. PMID: 32200349; PMCID: PMC7269827.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    43. Expanding the molecular and clinical phenotypes of FUT8-CDG. J Inherit Metab Dis. 2020 07; 43(4):871-879. Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH. PMID: 32049367; PMCID: PMC7359201.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    44. Defining the clinical phenotype of Saul-Wilson syndrome. Genet Med. 2020 05; 22(5):857-866. Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. PMID: 31949312; PMCID: PMC7205587.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    45. XMEN: welcome to the glycosphere. J Clin Invest. 2020 01 02; 130(1):80-82. Freeze HH. PMID: 31815737; PMCID: PMC6934210.
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    46. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. Cell Rep. 2019 12 24; 29(13):4620-4631.e4. Tambe MA, Ng BG, Freeze HH. PMID: 31875565.
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    47. Improving biochemical markers for disorders of N-glycosylation. Ann Transl Med. 2019 Sep; 7(Suppl 6):S176. Freeze HH. PMID: 31656755; PMCID: PMC6789335.
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    48. Therapeutic Monosaccharides: Looking Back, Moving Forward. Biochemistry. 2020 09 01; 59(34):3064-3077. Sosicka P, Ng BG, Freeze HH. PMID: 31398011; PMCID: PMC7282196.
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    49. Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing. Dis Model Mech. 2019 06 05; 12(6). Klaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R. PMID: 31101650; PMCID: PMC6602306.
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    50. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. PMID: 30817854; PMCID: PMC6661012.
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    51. Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. J Inherit Metab Dis. 2019 09; 42(5):993-997. Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. PMID: 30945312; PMCID: PMC6739144.
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    52. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. J Inherit Metab Dis. 2019 05; 42(3):553-564. Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K. PMID: 30746764.
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    53. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2019 03; 42(2):325-332. Chang IJ, Byers HM, Ng BG, Merritt JL, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. PMID: 30701557; PMCID: PMC6658093.
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    54. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 03; 179(3):498-502. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. PMID: 30676690; PMCID: PMC6426632.
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    55. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 01; 42(1):5-28. Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. PMID: 30740725.
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    56. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. Pediatr Neurol. 2019 05; 94:64-69. Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR. PMID: 30770273; PMCID: PMC6450714.
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    57. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 12 06; 103(6):1030-1037. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH. PMID: 30503518; PMCID: PMC6288200.
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    58. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567. Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. PMID: 30290151; PMCID: PMC6174323.
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    59. Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism. Cell Rep. 2018 09 18; 24(12):3087-3098. Sharma V, Smolin J, Nayak J, Ayala JE, Scott DA, Peterson SN, Freeze HH. PMID: 30231992; PMCID: PMC6207501.
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    60. Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import. Nat Commun. 2018 09 14; 9(1):3765. Nguyen D, Stutz R, Schorr S, Lang S, Pfeffer S, Freeze HH, Förster F, Helms V, Dudek J, Zimmermann R. PMID: 30217974; PMCID: PMC6138672.
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    61. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep. 2019; 44:85-92. Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA. PMID: 30117111; PMCID: PMC6323016.
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    62. Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. Glycobiology. 2018 05 01; 28(5):276-283. Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS. PMID: 29452367; PMCID: PMC6057529.
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    63. Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases. Glycobiology. 2018 05 01; 28(5):284-294. Joshi HJ, Hansen L, Narimatsu Y, Freeze HH, Henrissat B, Bennett E, Wandall HH, Clausen H, Schjoldager KT. PMID: 29579191; PMCID: PMC6279177.
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    64. The Art of Science Communication-A Novel Approach to Science Communication Training. J Microbiol Biol Educ. 2018; 19(1). Greer S, Alexander H, Baldwin TO, Freeze HH, Thompson M, Hunt G, Snowflack DR. PMID: 29904522; PMCID: PMC5969408.
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    65. Perspectives on Glycosylation and Its Congenital Disorders. Trends Genet. 2018 06; 34(6):466-476. Ng BG, Freeze HH. PMID: 29606283; PMCID: PMC5959770.
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    66. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. PMID: 29550355; PMCID: PMC10508399.
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    67. Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. Orphanet J Rare Dis. 2018 01 10; 13(1):4. Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA. PMID: 29321044; PMCID: PMC5763540.
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    68. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet. 2018 01 04; 102(1):188-195. Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH. PMID: 29304374; PMCID: PMC5777984.
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    69. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A. 2017 Nov; 173(11):2906-2911. Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Ensslen M, Freeze HH. PMID: 28856833; PMCID: PMC5650519.
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    70. Shake up conferences. Nature. 2017 08 09; 548(7666):153-154. Silberberg SD, Crawford DC, Finkelstein R, Koroshetz WJ, Blank RD, Freeze HH, Garrison HH, Seger YR. PMID: 28796229.
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    71. MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect. Elife. 2017 06 23; 6. Shtraizent N, DeRossi C, Nayar S, Sachidanandam R, Katz LS, Prince A, Koh AP, Vincek A, Hadas Y, Hoshida Y, Scott DK, Eliyahu E, Freeze HH, Sadler KC, Chu J. PMID: 28644127; PMCID: PMC5495572.
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    72. A "Glyconutrient Sham" and the Jenner Glycobiology and Medicine Symposium. Glycobiology. 2017 05 01; 27(5):383-384. Schnaar RL, Freeze HH. PMID: 28384366.
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    73. Dissecting the molecular organization of the translocon-associated protein complex. Nat Commun. 2017 02 20; 8:14516. Pfeffer S, Dudek J, Schaffer M, Ng BG, Albert S, Plitzko JM, Baumeister W, Zimmermann R, Freeze HH, Engel BD, Förster F. PMID: 28218252; PMCID: PMC5321747.
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    74. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90. Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE. PMID: 28216230; PMCID: PMC5444868.
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    75. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171. Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. PMID: 27480077; PMCID: PMC5115938.
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    76. Perhaps a wee bit of sugar would help. Nat Genet. 2016 06 28; 48(7):705-7. Freeze HH. PMID: 27350601; PMCID: PMC5428893.
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    77. Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. Pediatr Int. 2016 Aug; 58(8):785-8. Harshman LA, Ng BG, Freeze HH, Trapane P, Dolezal A, Brophy PD, Brumbaugh JE. PMID: 27325525; PMCID: PMC4996748.
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    78. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. Hum Mol Genet. 2016 06 01; 25(11):2182-2193. Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su SM, Freeze HH, Jin S. PMID: 27053713; PMCID: PMC5081049.
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    79. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH. PMID: 26931382; PMCID: PMC4907823.
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    80. trappc11 is required for protein glycosylation in zebrafish and humans. Mol Biol Cell. 2016 Apr 15; 27(8):1220-34. DeRossi C, Vacaru A, Rafiq R, Cinaroglu A, Imrie D, Nayar S, Baryshnikova A, Milev MP, Stanga D, Kadakia D, Gao N, Chu J, Freeze HH, Lehrman MA, Sacher M, Sadler KC. PMID: 26912795; PMCID: PMC4831877.
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    81. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Am J Hum Genet. 2016 Feb 04; 98(2):339-46. Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. PMID: 26805780; PMCID: PMC4746335.
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    82. The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation. Sci Signal. 2015 Dec 08; 8(406):ra124. Lau E, Feng Y, Claps G, Fukuda MN, Perlina A, Donn D, Jilaveanu L, Kluger H, Freeze HH, Ronai ZA. PMID: 26645581; PMCID: PMC4818095.
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    83. Symbol Nomenclature for Graphical Representations of Glycans. Glycobiology. 2015 Dec; 25(12):1323-4. Varki A, Cummings RD, Aebi M, Packer NH, Seeberger PH, Esko JD, Stanley P, Hart G, Darvill A, Kinoshita T, Prestegard JJ, Schnaar RL, Freeze HH, Marth JD, Bertozzi CR, Etzler ME, Frank M, Vliegenthart JF, Lütteke T, Perez S, Bolton E, Rudd P, Paulson J, Kanehisa M, Toukach P, Aoki-Kinoshita KF, Dell A, Narimatsu H, York W, Taniguchi N, Kornfeld S. PMID: 26543186; PMCID: PMC4643639.
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    84. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. Clin Chem. 2016 Jan; 62(1):208-17. Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. PMID: 26430078; PMCID: PMC4819965.
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    85. Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG. J Inherit Metab Dis. 2016 Jan; 39(1):107-14. Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA. PMID: 26335155; PMCID: PMC4822552.
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    86. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat. 2015 Nov; 36(11):1048-51. Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. PMID: 26264460; PMCID: PMC4604052.
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    93. Mannose metabolism: more than meets the eye. Biochem Biophys Res Commun. 2014 Oct 17; 453(2):220-8. Sharma V, Ichikawa M, Freeze HH. PMID: 24931670; PMCID: PMC4252654.
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    94. ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA. Mol Genet Metab Rep. 2014; 1:203-212. Bahena-Bahena D, López-Valdez J, Raymond K, Salinas-Marín R, Ortega-García A, Ng BG, Freeze HH, Ruíz-García M, Martínez-Duncker I. PMID: 27896089; PMCID: PMC5121299.
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    98. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014 Feb 06; 94(2):161-75. Freeze HH, Chong JX, Bamshad MJ, Ng BG. PMID: 24507773; PMCID: PMC3928651.
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    99. N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. Glycobiology. 2014 Apr; 24(4):392-8. He P, Srikrishna G, Freeze HH. PMID: 24474243; PMCID: PMC3954120.
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    100. Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J. 2014 Apr; 28(4):1854-69. Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH. PMID: 24421398; PMCID: PMC3963023.
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    101. The metabolic origins of mannose in glycoproteins. J Biol Chem. 2014 Mar 07; 289(10):6751-6761. Ichikawa M, Scott DA, Losfeld ME, Freeze HH. PMID: 24407290; PMCID: PMC3945336.
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    102. Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation. Mol Brain. 2013 Dec 04; 6:52. Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H. PMID: 24305089; PMCID: PMC3907076.
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    103. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet. 2014 Mar 15; 23(6):1602-5. Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. PMID: 24218363; PMCID: PMC3929095.
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    104. Metabolically programmed quality control system for dolichol-linked oligosaccharides. Proc Natl Acad Sci U S A. 2013 Nov 26; 110(48):19366-71. Harada Y, Nakajima K, Masahara-Negishi Y, Freeze HH, Angata T, Taniguchi N, Suzuki T. PMID: 24218558; PMCID: PMC3845098.
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    105. Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic. 2014 Jan; 15(1):12-21. Cottam NP, Wilson KM, Ng BG, Körner C, Freeze HH, Ungar D. PMID: 24102787; PMCID: PMC3892563.
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    106. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9. Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. PMID: 24144945; PMCID: PMC3909743.
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    107. Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes. Traffic. 2013 Oct; 14(10):1065-77. Laufman O, Freeze HH, Hong W, Lev S. PMID: 23865579; PMCID: PMC4084554.
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    108. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15; 22(22):4638-45. Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. PMID: 23842455; PMCID: PMC3888133.
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    109. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013 Nov; 110(3):345-351. Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. PMID: 23856421; PMCID: PMC3800268.
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    110. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013 Apr 04; 92(4):632-6. Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Freeze HH. PMID: 23561849; PMCID: PMC3617373.
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    111. Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem. 2013 Mar 08; 288(10):6936-45. Freeze HH. PMID: 23329837; PMCID: PMC3591604.
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    112. A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell. 2012 Nov; 23(21):4175-87. Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R. PMID: 22956764; PMCID: PMC3484097.
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    113. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. Dis Model Mech. 2013 Jan; 6(1):95-105. Chu J, Mir A, Gao N, Rosa S, Monson C, Sharma V, Steet R, Freeze HH, Lehrman MA, Sadler KC. PMID: 22899857; PMCID: PMC3529342.
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    114. HNF4α antagonists discovered by a high-throughput screen for modulators of the human insulin promoter. Chem Biol. 2012 Jul 27; 19(7):806-18. Kiselyuk A, Lee SH, Farber-Katz S, Zhang M, Athavankar S, Cohen T, Pinkerton AB, Ye M, Bushway P, Richardson AD, Hostetler HA, Rodriguez-Lee M, Huang L, Spangler B, Smith L, Higginbotham J, Cashman J, Freeze H, Itkin-Ansari P, Dawson MI, Schroeder F, Cang Y, Mercola M, Levine F. PMID: 22840769; PMCID: PMC3447631.
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    115. A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J. 2012 Oct; 26(10):4210-7. Losfeld ME, Soncin F, Ng BG, Singec I, Freeze HH. PMID: 22691915; PMCID: PMC3448770.
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    116. TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet. 2012 Jul 13; 91(1):15-26. Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. PMID: 22683087; PMCID: PMC3397274.
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    117. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012 May; 11(5):453-66. Freeze HH, Eklund EA, Ng BG, Patterson MC. PMID: 22516080; PMCID: PMC3625645.
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    118. Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem. 2012 May 25; 287(22):18210-7. He P, Ng BG, Losfeld ME, Zhu W, Freeze HH. PMID: 22496445; PMCID: PMC3365753.
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    119. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012 Apr 06; 90(4):685-8. Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. PMID: 22444671; PMCID: PMC3322218.
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    120. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012 Feb 10; 90(2):363-8. Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. PMID: 22305527; PMCID: PMC3276676.
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    122. Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem. 2011 Nov 11; 286(45):39431-8. Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH. PMID: 21949237; PMCID: PMC3234766.
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    123. Golgi glycosylation and human inherited diseases. Cold Spring Harb Perspect Biol. 2011 Sep 01; 3(9):a005371. Freeze HH, Ng BG. PMID: 21709180; PMCID: PMC3181031.
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    125. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab. 2011 May; 103(1):101-3. Miller BS, Freeze HH, Hoffmann GF, Sarafoglou K. PMID: 21334936; PMCID: PMC3869397.
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    126. Mannose efflux from the cells: a potential source of mannose in blood. J Biol Chem. 2011 Mar 25; 286(12):10193-200. Sharma V, Freeze HH. PMID: 21273394; PMCID: PMC3060472.
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    127. Identification of the first COG-CDG patient of Indian origin. Mol Genet Metab. 2011 Mar; 102(3):364-7. Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH. PMID: 21185756; PMCID: PMC3058693.
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    128. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Protein Sci. 2010 Nov; Chapter 12:Unit12.4. Freeze HH, Kranz C. PMID: 21104982.
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    129. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142(2):203-17. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. PMID: 20637498; PMCID: PMC2940322.
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    132. Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy. Clin Cancer Res. 2010 Jun 15; 16(12):3205-14. Contessa JN, Bhojani MS, Freeze HH, Ross BD, Rehemtulla A, Lawrence TS. PMID: 20413434; PMCID: PMC3413408.
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    133. Metabolic manipulation of glycosylation disorders in humans and animal models. Semin Cell Dev Biol. 2010 Aug; 21(6):655-62. Freeze HH, Sharma V. PMID: 20363348; PMCID: PMC2917643.
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    134. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Immunol. 2010 Apr; Chapter 8:Unit 8.15.1-25. Freeze HH, Kranz C. PMID: 20376844.
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    135. Achondrogenesis type 1A--from mouse to human. N Engl J Med. 2010 Jan 21; 362(3):266-7. Freeze HH. PMID: 20089978.
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    136. Endoglycosidase and glycoamidase release of N-linked glycans. Curr Protoc Mol Biol. 2010 Jan; Chapter 17:Unit 17.13A. Freeze HH, Kranz C. PMID: 20069534; PMCID: PMC3869378.
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    137. Symbol nomenclature for glycan representation. Proteomics. 2009 Dec; 9(24):5398-9. Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Marth JD, Bertozzi CR, Hart GW, Etzler ME. PMID: 19902428; PMCID: PMC2882983.
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    139. CDG nomenclature: time for a change! Biochim Biophys Acta. 2009 Sep; 1792(9):825-6. Jaeken J, Hennet T, Matthijs G, Freeze HH. PMID: 19765534; PMCID: PMC3917312.
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    140. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. Biochim Biophys Acta. 2009 Sep; 1792(9):835-40. Freeze HH. PMID: 19339218; PMCID: PMC2783247.
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    141. Overview of glycoconjugate analysis. Curr Protoc Protein Sci. 2009 Aug; Chapter 12:Unit 12.1 12.1.1-8. Varki A, Freeze HH, Manzi AE. PMID: 19688734; PMCID: PMC2749716.
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    143. Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts. Mol Genet Metab. 2009 Apr; 96(4):268-72. Higashidani A, Bode L, Nishikawa A, Freeze HH. PMID: 19157945; PMCID: PMC2676341.
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    145. Stimulation of chondrocyte-mediated cartilage destruction by S100A8 in experimental murine arthritis. Arthritis Rheum. 2008 Dec; 58(12):3776-87. van Lent PL, Grevers LC, Blom AB, Arntz OJ, van de Loo FA, van der Kraan P, Abdollahi-Roodsaz S, Srikrishna G, Freeze H, Sloetjes A, Nacken W, Vogl T, Roth J, van den Berg WB. PMID: 19035520.
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    148. On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis. 2008 Dec; 31(6):669-72. Jaeken J, Hennet T, Freeze HH, Matthijs G. PMID: 18949576.
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    149. Proinflammatory S100 proteins regulate the accumulation of myeloid-derived suppressor cells. J Immunol. 2008 Oct 01; 181(7):4666-75. Sinha P, Okoro C, Foell D, Freeze HH, Ostrand-Rosenberg S, Srikrishna G. PMID: 18802069; PMCID: PMC2810501.
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    150. RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis. Carcinogenesis. 2008 Oct; 29(10):2035-43. Turovskaya O, Foell D, Sinha P, Vogl T, Newlin R, Nayak J, Nguyen M, Olsson A, Nawroth PP, Bierhaus A, Varki N, Kronenberg M, Freeze HH, Srikrishna G. PMID: 18689872; PMCID: PMC2556970.
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    152. Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. Nat Clin Pract Gastroenterol Hepatol. 2008 Apr; 5(4):220-4. Liem YS, Bode L, Freeze HH, Leebeek FW, Zandbergen AA, Paul Wilson J. PMID: 18285818.
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    164. Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms. Ann Thorac Surg. 2006 Aug; 82(2):695-700. Ostrow AM, Freeze H, Rychik J. PMID: 16863787.
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    165. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics. 2006 Aug; 118(2):e514-21. Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. PMID: 16816004.
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    166. Genetic defects in the human glycome. Nat Rev Genet. 2006 Jul; 7(7):537-51. Freeze HH. PMID: 16755287.
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    167. The Nuclear Overhauser Effect in the lead identification process. Curr Drug Discov Technol. 2006 Jun; 3(2):91-100. Leone M, Freeze HH, Chan CS, Pellecchia M. PMID: 16925517.
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    168. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx. 2006 Apr; 3(2):254-63. Eklund EA, Freeze HH. PMID: 16554263; PMCID: PMC3593443.
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    169. Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res. 2006 Feb; 59(2):293-8. Mandato C, Brive L, Miura Y, Davis JA, Di Cosmo N, Lucariello S, Pagliardini S, Seo NS, Parenti G, Vecchione R, Freeze HH, Vajro P. PMID: 16439595.
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    170. Heparan sulfate plays a central role in a dynamic in vitro model of protein-losing enteropathy. J Biol Chem. 2006 Mar 24; 281(12):7809-15. Bode L, Murch S, Freeze HH. PMID: 16434407.
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    171. Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. Biochem Biophys Res Commun. 2006 Jan 20; 339(3):755-60. Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH. PMID: 16321363.
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    172. Applied glycoproteomics--approaches to study genetic-environmental collisions causing protein-losing enteropathy. Biochim Biophys Acta. 2006 Apr; 1760(4):547-59. Bode L, Freeze HH. PMID: 16380211.
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    173. Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. J Biol Chem. 2006 Mar 03; 281(9):5916-27. DeRossi C, Bode L, Eklund EA, Zhang F, Davis JA, Westphal V, Wang L, Borowsky AD, Freeze HH. PMID: 16339137.
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    174. Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. J Pediatr. 2005 Dec; 147(6):851-3. Miura Y, Tay SK, Aw MM, Eklund EA, Freeze HH. PMID: 16356446.
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    175. Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. J Pediatr. 2005 Dec; 147(6):847-50. Eklund EA, Sun L, Westphal V, Northrop JL, Freeze HH, Scaglia F. PMID: 16356445.
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    176. Carboxylated glycans mediate colitis through activation of NF-kappa B. J Immunol. 2005 Oct 15; 175(8):5412-22. Srikrishna G, Turovskaya O, Shaikh R, Newlin R, Foell D, Murch S, Kronenberg M, Freeze HH. PMID: 16210648.
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    177. Altered glycan structures: the molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol. 2005 Oct; 15(5):490-8. Freeze HH, Aebi M. PMID: 16154350.
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    178. Essentials of glycosylation. Semin Pediatr Neurol. 2005 Sep; 12(3):134-43. Eklund EA, Freeze HH. PMID: 16584072.
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    179. Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A. 2005 Aug 15; 137(1):22-6. Sun L, Eklund EA, Van Hove JL, Freeze HH, Thomas JA. PMID: 16007612.
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    180. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Glycobiology. 2005 Nov; 15(11):1084-93. Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH. PMID: 16079417.
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    181. Novel carboxylated N-glycans contain oligosaccharide-linked glutamic acid. Biochem Biophys Res Commun. 2005 Jul 15; 332(4):1020-7. Srikrishna G, Brive L, Freeze HH. PMID: 15922305.
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    182. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab. 2005 Jul; 90(7):4371-5. Sun L, Eklund EA, Chung WK, Wang C, Cohen J, Freeze HH. PMID: 15840742.
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    183. Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol. 2005 May; 288(5):G1015-23. Bode L, Eklund EA, Murch S, Freeze HH. PMID: 15604198.
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    184. Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab. 2005 Jan; 84(1):25-31. Eklund EA, Newell JW, Sun L, Seo NS, Alper G, Willert J, Freeze HH. PMID: 15639192.
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    185. Carbohydrate deficient glycoprotein syndrome type Ia. J Formos Med Assoc. 2004 Sep; 103(9):721-3. Chu KL, Chien YH, Tsai CE, Freeze HH, Eklund E, Hwu WL. PMID: 15361947.
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    186. Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms. Clin Chem. 2004 May; 50(5):954-8. Helander A, Bergström J, Freeze HH. PMID: 15105360.
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    187. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med. 2004 May; 10(5):518-23. Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH. PMID: 15107842.
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    188. Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat. 2003 Nov; 22(5):420-1. Westphal V, Xiao M, Kwok PY, Freeze HH. PMID: 14517965.
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    189. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat. 2003 Aug; 22(2):144-50. Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH. PMID: 12872255.
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    190. Congenital disorder of glycosylation Ic in patients of Indian origin. Mol Genet Metab. 2003 Jul; 79(3):221-8. Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH. PMID: 12855228.
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    191. Mass spectrometry provides sweet inspiration. Nat Biotechnol. 2003 Jun; 21(6):627-9. Freeze H. PMID: 12776147.
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    192. Glycobiology of neuromuscular disorders. Glycobiology. 2003 Aug; 13(8):67R-75R. Martin PT, Freeze HH. PMID: 12736200.
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    193. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. Rev Endocr Metab Disord. 2003 Mar; 4(1):103-13. Miller BS, Freeze HH. PMID: 12618564.
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    194. Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. Anal Chem. 2003 Jan 01; 75(1):42-8. Li Y, Ogata Y, Freeze HH, Scott CR, Turecek F, Gelb MH. PMID: 12530817.
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    195. GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms. Genomics. 2002 Dec; 80(6):553-7. Wu X, Freeze HH. PMID: 12504846.
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    196. Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase. Glycobiology. 2002 Jul; 12(7):435-42. Davis JA, Wu XH, Wang L, DeRossi C, Westphal V, Wu R, Alton G, Srikrishna G, Freeze HH. PMID: 12122025.
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    197. Cloning and characterization of glucose transporter 11, a novel sugar transporter that is alternatively spliced in various tissues. Mol Genet Metab. 2002 May; 76(1):37-45. Wu X, Li W, Sharma V, Godzik A, Freeze HH. PMID: 12175779.
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    198. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet. 2002 Mar 01; 11(5):599-604. Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH. PMID: 11875054.
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    199. Structure-activity profiles of complex biantennary glycans with core fucosylation and with/without additional alpha 2,3/alpha 2,6 sialylation: synthesis of neoglycoproteins and their properties in lectin assays, cell binding, and organ uptake. J Med Chem. 2002 Jan 17; 45(2):478-91. Unverzagt C, André S, Seifert J, Kojima S, Fink C, Srikrishna G, Freeze H, Kayser K, Gabius HJ. PMID: 11784152.
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    200. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest. 2001 Dec; 108(11):1613-9. Kranz C, Denecke J, Lehrman MA, Ray S, Kienz P, Kreissel G, Sagi D, Peter-Katalinic J, Freeze HH, Schmid T, Jackowski-Dohrmann S, Harms E, Marquardt T. PMID: 11733556; PMCID: PMC200991.
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    201. Update and perspectives on congenital disorders of glycosylation. Glycobiology. 2001 Dec; 11(12):129R-143R. Freeze HH. PMID: 11805072.
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    202. The pathology of N-glycosylation--stay the middle, avoid the risks. Glycobiology. 2001 Dec; 11(12):37G-38G. Freeze HH. PMID: 11855366.
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    203. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med. 2001 Nov-Dec; 3(6):393-8. Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH. PMID: 11715002.
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    204. Congenital disorders of glycosylation and the pediatric liver. Semin Liver Dis. 2001 Nov; 21(4):501-15. Freeze HH. PMID: 11745038.
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    205. Analysis of sulfate esters by solvolysis or hydrolysis. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.23. Freeze HH. PMID: 18265159.
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    206. Lectin analysis of proteins blotted onto filters. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.7. Freeze HH. PMID: 18265163.
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    207. Use of glycosidases to study protein trafficking. Curr Protoc Cell Biol. 2001 May; Chapter 15:Unit 15.2. Freeze HH. PMID: 18228329.
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    208. Special considerations for glycoproteins and their purification. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.1. Freeze HH. PMID: 18265136.
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    209. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. Mol Genet Metab. 2001 May; 73(1):77-85. Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH. PMID: 11350186.
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    210. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Mol Genet Metab. 2001 May; 73(1):71-6. Westphal V, Enns GM, McCracken MF, Freeze HH. PMID: 11350185.
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    211. Endoglycosidase and glycoamidase release of N-linked oligosaccharides. Curr Protoc Mol Biol. 2001 May; Chapter 17:Unit17.13A. Freeze HH. PMID: 18265141.
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    212. Overview of glycoconjugate analysis. Curr Protoc Protein Sci. 2001 May; Chapter 12:Unit 12.1. Varki A, Freeze HH, Manzi AE. PMID: 18429108.
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    213. Lectin affinity chromatography. Curr Protoc Protein Sci. 2001 May; Chapter 9:Unit 9.1. Freeze HH. PMID: 18429210.
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    214. Release of saccharides from glycoconjugates. Curr Protoc Immunol. 2001 May; Chapter 8:Unit 8.15. Powell LD, Varki AP, Freeze HH. PMID: 18432855.
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    216. Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study. Biol Chem. 2001 Feb; 382(2):161-77. Marquardt T, Freeze H. PMID: 11308015.
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    217. A novel anionic modification of N-glycans on mammalian endothelial cells is recognized by activated neutrophils and modulates acute inflammatory responses. J Immunol. 2001 Jan 01; 166(1):624-32. Srikrishna G, Toomre DK, Manzi A, Panneerselvam K, Freeze HH, Varki A, Varki NM. PMID: 11123346.
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    218. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am J Pathol. 2000 Dec; 157(6):1917-25. Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH. PMID: 11106564; PMCID: PMC1885788.
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    219. Lysosomal protease pathways to apoptosis. Cleavage of bid, not pro-caspases, is the most likely route. J Biol Chem. 2001 Feb 02; 276(5):3149-57. Stoka V, Turk B, Schendel SL, Kim TH, Cirman T, Snipas SJ, Ellerby LM, Bredesen D, Freeze H, Abrahamson M, Bromme D, Krajewski S, Reed JC, Yin XM, Turk V, Salvesen GS. PMID: 11073962.
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    223. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). Glycobiology. 2000 Aug; 10(8):829-35. Rush JS, Panneerselvam K, Waechter CJ, Freeze HH. PMID: 10929009.
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    224. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. Mol Genet Metab. 2000 Jul; 70(3):219-23. Westphal V, Schottstädt C, Marquardt T, Freeze HH. PMID: 10924277.
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    227. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr. 1999 Dec; 135(6):775-81. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV. PMID: 10586187.
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    229. Aglycone structure influences alpha-fucosyltransferase III activity using N-acetyllactosamine glycoside acceptors. Glycoconj J. 1999 Nov; 16(11):725-30. Miura Y, Kim S, Etchison JR, Ding Y, Hindsgaul O, Freeze HH. PMID: 11003557.
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    244. Dictyostelium lysosomal proteins with different sugar modifications sort to functionally distinct compartments. J Cell Sci. 1997 Sep; 110 ( Pt 18):2239-48. Souza GM, Mehta DP, Lammertz M, Rodriguez-Paris J, Wu R, Cardelli JA, Freeze HH. PMID: 9378773.
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    245. Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1. Biochem Mol Med. 1997 Aug; 61(2):161-7. Panneerselvam K, Etchison JR, Skovby F, Freeze HH. PMID: 9259981.
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    246. Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis. Cell. 1997 Jul 11; 90(1):157-67. Chui D, Oh-Eda M, Liao YF, Panneerselvam K, Lal A, Marek KW, Freeze HH, Moremen KW, Fukuda MN, Marth JD. PMID: 9230311.
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    247. Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I. Biochem Mol Med. 1997 Apr; 60(2):127-33. Alton G, Kjaergaard S, Etchison JR, Skovby F, Freeze HH. PMID: 9169093.
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    248. Enzymatic assay of D-mannose in serum. Clin Chem. 1997 Mar; 43(3):533-8. Etchison JR, Freeze HH. PMID: 9068599.
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    249. The cysteine proteinase gene cprG in Dictyostelium discoideum has a serine-rich domain that contains GlcNAc-1-P. Arch Biochem Biophys. 1997 Mar 01; 339(1):64-72. Ord T, Adessi C, Wang L, Freeze HH. PMID: 9056234.
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    250. Consequences of disrupting the gene that encodes alpha-glucosidase II in the N-linked oligosaccharide biosynthesis pathway of Dictyostelium discoideum. Dev Genet. 1997; 21(3):177-86. Freeze HH, Lammertz M, Iranfar N, Fuller D, Panneerselvam K, Loomis WF. PMID: 9397534.
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    251. A lysosomal cysteine proteinase from Dictyostelium discoideum contains N-acetylglucosamine-1-phosphate bound to serine but not mannose-6-phosphate on N-linked oligosaccharides. J Biol Chem. 1996 May 03; 271(18):10897-903. Mehta DP, Ichikawa M, Salimath PV, Etchison JR, Haak R, Manzi A, Freeze HH. PMID: 8631906.
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    252. Mannose enters mammalian cells using a specific transporter that is insensitive to glucose. J Biol Chem. 1996 Apr 19; 271(16):9417-21. Panneerselvam K, Freeze HH. PMID: 8621609.
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    253. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J Clin Invest. 1996 Mar 15; 97(6):1478-87. Panneerselvam K, Freeze HH. PMID: 8617881; PMCID: PMC507208.
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    254. A new approach to mapping co-localization of multiple glycosyl transferases in functional Golgi preparations. Glycobiology. 1996 Mar; 6(2):177-89. Etchison JR, Freeze HH. PMID: 8727790.
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    255. Human melanoma and Chinese hamster ovary cells galactosylate n-alkyl-beta-glucosides using UDP gal:GlcNAc beta 1,4 galactosyltransferase. Glycobiology. 1996 Jan; 6(1):7-13. Pörtner A, Etchison JR, Sampath D, Freeze HH. PMID: 8991512.
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    256. Identification of two novel Dictyostelium discoideum cysteine proteinases that carry N-acetylglucosamine-1-P-modification. J Biol Chem. 1995 Dec 01; 270(48):28938-45. Souza GM, Hirai J, Mehta DP, Freeze HH. PMID: 7499424.
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    257. Unusual anionic N-linked oligosaccharides from bovine lung. J Biol Chem. 1995 Nov 17; 270(46):27634-45. Norgard-Sumnicht KE, Roux L, Toomre DK, Manzi A, Freeze HH, Varki A. PMID: 7499228.
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    258. Characterization, subcellular localization, and developmental regulation of a cysteine proteinase from Dictyostelium discoideum. Arch Biochem Biophys. 1995 Aug 01; 321(1):191-8. Mehta DP, Etchison JR, Freeze HH. PMID: 7639520.
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    259. Identification of a novel glycosaminoglycan core-like molecule. I. 500 MHz 1H NMR analysis using a nano-NMR probe indicates the presence of a terminal alpha-GalNAc residue capping 4-methylumbelliferyl-beta-D-xylosides. J Biol Chem. 1995 Apr 21; 270(16):9154-63. Manzi A, Salimath PV, Spiro RC, Keifer PA, Freeze HH. PMID: 7721830.
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    260. Identification of a novel glycosaminoglycan core-like molecule. II. Alpha-GalNAc-capped xylosides can be made by many cell types. J Biol Chem. 1995 Apr 21; 270(16):9164-8. Salimath PV, Spiro RC, Freeze HH. PMID: 7721831.
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    261. Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts. Biochem Biophys Res Commun. 1995 Mar 17; 208(2):517-22. Panneerselvam K, Freeze HH. PMID: 7695602.
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    262. Identification of N-acetylglucosamine-alpha-1-phosphate transferase activity in Dictyostelium discoideum: an enzyme that initiates phosphoglycosylation. Biochem Biophys Res Commun. 1995 Mar 08; 208(1):384-9. Freeze HH, Ichikawa M. PMID: 7887953.
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    263. A novel method to co-localize glycosaminoglycan-core oligosaccharide glycosyltransferases in rat liver Golgi. Co-localization of galactosyltransferase I with a sialyltransferase. J Biol Chem. 1995 Jan 13; 270(2):756-64. Etchison JR, Srikrishna G, Freeze HH. PMID: 7822307.
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    264. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J Clin Invest. 1994 Nov; 94(5):1901-9. Powell LD, Paneerselvam K, Vij R, Diaz S, Manzi A, Buist N, Freeze H, Varki A. PMID: 7962535; PMCID: PMC294598.
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    265. The major glycosylation pathways of mammalian membranes. A summary. Subcell Biochem. 1994; 22:71-100. Varki A, Freeze HH. PMID: 8146888.
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    266. Biosynthesis of oligosaccharides in intact Golgi preparations from rat liver. Analysis of N-linked glycans labeled by UDP-[6-3H]N-acetylglucosamine. J Biol Chem. 1993 Aug 05; 268(22):16139-54. Hayes BK, Freeze HH, Varki A. PMID: 8344899.
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    267. Alpha- and beta-xylosides alter glycolipid synthesis in human melanoma and Chinese hamster ovary cells. J Biol Chem. 1993 Jan 25; 268(3):1618-27. Freeze HH, Sampath D, Varki A. PMID: 8420936.
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    268. A novel pathway for phosphorylated oligosaccharide biosynthesis. Identification of an oligosaccharide-specific phosphate methyltransferase in dictyostelium discoideum. J Biol Chem. 1992 Mar 05; 267(7):4431-9. Freeze HH, Hindsgaul O, Ichikawa M. PMID: 1531653.
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    269. The spectrum of incomplete N-linked oligosaccharides synthesized by endothelial cells in the presence of brefeldin A. J Biol Chem. 1992 Mar 05; 267(7):4440-55. Sampath D, Varki A, Freeze HH. PMID: 1537830.
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    270. Uncoupling of chondroitin sulfate glycosaminoglycan synthesis by brefeldin A. J Cell Biol. 1991 Dec; 115(5):1463-73. Spiro RC, Freeze HH, Sampath D, Garcia JA. PMID: 1955486; PMCID: PMC2289244.
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    271. Sulfated N-linked oligosaccharides affect secretion but are not essential for the transport, proteolytic processing, and sorting of lysosomal enzymes in Dictyostelium discoideum. J Biol Chem. 1990 May 25; 265(15):8847-53. Cardelli JA, Bush JM, Ebert D, Freeze HH. PMID: 2111325.
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    272. Cell-free N-glycosylation in Dictyostelium discoideum: analysis of wild-type and mutants defective in lipid-linked oligosaccharide biosynthesis. J Cell Biochem. 1990 May; 43(1):27-42. Freeze HH, Koza-Taylor P, Jones JA, Loomis WF. PMID: 2347875.
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    273. Biochemical and genetic analysis of an antigenic determinant found on N-linked oligosaccharides in Dictyostelium. Dev Genet. 1990; 11(5-6):463-72. Freeze HH, Bush JM, Cardelli J. PMID: 1710552.
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    274. Biochemical and genetic analysis of the biosynthesis, sorting, and secretion of Dictyostelium lysosomal enzymes. Dev Genet. 1990; 11(5-6):454-62. Cardelli JA, Schatzle J, Bush JM, Richardson J, Ebert D, Freeze H. PMID: 2128926.
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    275. The effects of altered N-linked oligosaccharide structures on maturation and targeting of lysosomal enzymes in Dictyostelium discoideum. J Biol Chem. 1989 Nov 15; 264(32):19278-86. Freeze HH, Koza-Taylor P, Saunders A, Cardelli JA. PMID: 2509475.
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    276. A Dictyostelium discoideum mutant that missorts and oversecretes lysosomal enzyme precursors is defective in endocytosis. J Cell Biol. 1989 Oct; 109(4 Pt 1):1445-56. Ebert DL, Freeze HH, Richardson J, Dimond RL, Cardelli JA. PMID: 2507551; PMCID: PMC2115801.
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    277. Characteristics of the sulfation of N-linked oligosaccharides in vesicles from Dictyostelium discoideum: in vitro sulfation of lysosomal enzymes. Arch Biochem Biophys. 1989 Sep; 273(2):505-15. Lacoste CH, Freeze HH, Jones JA, Kaplan A. PMID: 2774565.
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    278. Two mutants of Dictyostelium discoideum that lack a sulfated carbohydrate antigenic determinant synthesize a truncated lipid-linked precursor of N-linked oligosaccharides. J Biol Chem. 1989 Apr 05; 264(10):5653-9. Freeze HH, Willies L, Hamilton S, Koza-Taylor P. PMID: 2466828.
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    279. An immunological assessment of lysosomal enzymes and other macromolecules sulfated during vegetative growth of Dictyostelium discoideum. J Cell Biochem. 1988 Oct; 38(2):113-6. Davis SJ, Wheldrake JF, Freeze HH. PMID: 3146578.
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    280. Sulfated N-linked oligosaccharides in mammalian cells. II. Identification of glycosaminoglycan-like chains attached to complex-type glycans. J Biol Chem. 1988 Jun 25; 263(18):8890-6. Sundblad G, Holojda S, Roux L, Varki A, Freeze HH. PMID: 3379051.
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    281. Sulfated N-linked oligosaccharides in mammalian cells. I. Complex-type chains with sialic acids and O-sulfate esters. J Biol Chem. 1988 Jun 25; 263(18):8879-89. Roux L, Holojda S, Sundblad G, Freeze HH, Varki A. PMID: 3379050.
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    282. Sulfated N-linked oligosaccharides in mammalian cells. III. Characterization of a pancreatic carcinoma cell surface glycoprotein with N- and O-sulfate esters on asparagine-linked glycans. J Biol Chem. 1988 Jun 25; 263(18):8897-903. Sundblad G, Kajiji S, Quaranta V, Freeze HH, Varki A. PMID: 3379052.
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    283. Characterization and distribution of multiple antigens on N-linked oligosaccharides of Dictyostelium discoideum proteins. Arch Biochem Biophys. 1987 Mar; 253(2):305-14. Judelson HS, Freeze HH, Dimond RL. PMID: 2436575.
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    284. Endo-glycosidase F and peptide N-glycosidase F release the great majority of total cellular N-linked oligosaccharides: use in demonstrating that sulfated N-linked oligosaccharides are frequently found in cultured cells. Biochem Biophys Res Commun. 1986 Nov 14; 140(3):967-73. Freeze HH, Varki A. PMID: 3096333.
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    285. Modifications of lysosomal enzymes in Dictyostelium discoideum. Mol Cell Biochem. 1986 Nov-Dec; 72(1-2):47-65. Freeze HH. PMID: 2434832; PMCID: PMC7089276.
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    286. Structural analysis of N-linked oligosaccharides from glycoproteins secreted by Dictyostelium discoideum. Identification of mannose 6-sulfate. J Biol Chem. 1986 Jan 05; 261(1):127-34. Freeze HH, Wolgast D. PMID: 3753599.
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    287. Biosynthesis of methylphosphomannosyl residues in the oligosaccharides of Dictyostelium discoideum glycoproteins. Evidence that the methyl group is derived from methionine. J Biol Chem. 1986 Jan 05; 261(1):135-41. Freeze HH, Wolgast D. PMID: 3079752.
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    288. Mannose 6-sulfate is present in the N-linked oligosaccharides of lysosomal enzymes of Dictyostelium. Arch Biochem Biophys. 1985 Dec; 243(2):690-3. Freeze HH. PMID: 2935083.
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    289. Interaction of Dictyostelium discoideum lysosomal enzymes with the mammalian phosphomannosyl receptor. The importance of oligosaccharides which contain phosphodiesters. J Biol Chem. 1985 Jul 25; 260(15):8857-64. Freeze HH. PMID: 2991222.
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    290. Sulfated oligosaccharides block antibodies to many Dictyostelium discoideum acid hydrolases. J Biol Chem. 1984 Aug 25; 259(16):10641-3. Freeze HH, Mierendorf RC, Wunderlich R, Dimond RL. PMID: 6206058.
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    291. Presence of a nonlysosomal endo-beta-N-acetylglucosaminidase in the cellular slime mold Dictyostelium discoideum. Arch Biochem Biophys. 1984 Jul; 232(1):414-21. Freeze HH, Etchison JR. PMID: 6430241.
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    292. Identification of mannose 6-phosphate receptors in rabbit alveolar macrophages. J Biol Chem. 1984 Feb 25; 259(4):2257-61. Shepherd VL, Freeze HH, Miller AL, Stahl PD. PMID: 6321465.
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    293. Structural analysis of the asparagine-linked oligosaccharides from three lysosomal enzymes of Dictyostelium discoideum. Evidence for an unusual acid-stable phosphodiester. J Biol Chem. 1983 Dec 25; 258(24):14874-9. Freeze HH, Yeh R, Miller AL, Kornfeld S. PMID: 6228551.
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    294. The mod A mutant of Dictyostelium discoideum is missing the alpha 1,3-glucosidase involved in asparagine-linked oligosaccharide processing. J Biol Chem. 1983 Dec 25; 258(24):14880-4. Freeze HH, Yeh R, Miller AL, Kornfeld S. PMID: 6361022.
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    295. Uptake of alpha-D-mannosidase and beta-D-glucosidase from Dictyostelium discoideum via the phosphohexosyl receptor on normal human fibroblasts. J Biol Chem. 1983 Jul 25; 258(14):8928-33. Freeze HH, Yeh RY, Miller AL. PMID: 6306004.
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    296. Mucolipidosis III beta-N-acetyl-D-hexosaminidase A. Purification and properties. Biochem J. 1982 Dec 01; 207(3):421-8. Kress BC, Hirani S, Freeze HH, Little L, Miller AL. PMID: 6219664; PMCID: PMC1153881.
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    297. Mod A: a post-translational mutation affecting phosphorylated and sulfated glycopeptides in Dictyostelium discoideum. Mol Cell Biochem. 1981 Feb 26; 35(1):17-27. Freeze HH, Miller AL. PMID: 6261116.
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    298. Acid hydrolases from Dictyostelium discoideum contain phosphomannosyl recognition markers. J Biol Chem. 1980 Dec 10; 255(23):11081-4. Freeze HH, Miller AL, Kaplan A. PMID: 6449506.
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    299. Purification and characterization of I-cell disease alpha-L-fucosidase. J Biol Chem. 1980 Feb 10; 255(3):955-61. Kress BC, Freeze HH, Herd JK, Alhadeff JA, Miller AL. PMID: 7356669.
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    300. Unaltered catabolism of desialylated low-density lipoprotein in the pig and in cultured rat hepatocytes. Biochem J. 1979 Jun 15; 180(3):647-54. Attie AD, Weinstein DB, Freeze HH, Pittman RC, Steinberg D. PMID: 90503; PMCID: PMC1161105.
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    301. Carbohydrate composition of human placental N-acetylhexosaminidase A and B. Biochem J. 1979 Feb 01; 177(2):749-52. Freeze H, Geiger B, Miller AL. PMID: 435265; PMCID: PMC1186427.
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    302. Carbohydrate composition of purified serum glycoproteins in mucolipidosis II and mucolipidosis III. Mol Cell Biochem. 1978 Oct 13; 21(1):17-21. Freeze H, Kress BC, Williams JC, Cerda-Ruiz M, Miller AL. PMID: 215898.
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    303. Characterization and genetic mapping of modA. A mutation in the post-translational modification of the glycosidases of Dictyostelium discoideum. J Biol Chem. 1978 Jun 25; 253(12):4102-6. Free SJ, Schimke RT, Freeze H, Loomis WF. PMID: 96112.
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    304. A comparison of molecular properties of hepatic triglyceride lipase and lipoprotein lipase from human post-heparin plasma. J Biol Chem. 1978 May 10; 253(9):2912-20. Augustin J, Freeze H, Tejada P, Brown WV. PMID: 641046.
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    305. Purification and characterization of altered cystic fibrosis liver alpha-L-fucosidase. Clin Genet. 1978 May; 13(5):417-24. Alhadeff JA, Watkins P, Freeze H. PMID: 657582.
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    306. Chemical analysis of stalk components of Dictostelium discoideum. Biochim Biophys Acta. 1978 Apr 03; 539(4):529-37. Freeze H, Loomis WF. PMID: 565220.
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    307. Carbohydrate composition of purified human liver alpha-L-fucosidase. Mol Cell Biochem. 1977 Nov 25; 18(1):33-7. Alhadeff JA, Freeze H. PMID: 600269.
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    308. The role of the fibrillar component of the surface sheath in the morphogenesis of Dictyostelium discoideum. Dev Biol. 1977 Mar; 56(1):184-94. Freeze H, Loomis WF. PMID: 557007.
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    309. Isolation and characterization of a component of the surface sheath of Dictyostelium discoideum. J Biol Chem. 1977 Feb 10; 252(3):820-4. Freeze H, Loomis WF. PMID: 557037.
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    310. Quantitative estimation of bacteriochlorophyll in situ. Arch Biochem Biophys. 1970 Feb; 136(2):578-80. Sojka GA, Freeze HH, Gest H. PMID: 5435447.
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    311. Thermostable aldolase from Thermus aquaticus. J Bacteriol. 1970 Feb; 101(2):541-50. Freeze H, Brock TD. PMID: 4984076; PMCID: PMC284939.
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    312. Thermus aquaticus gen. n. and sp. n., a nonsporulating extreme thermophile. J Bacteriol. 1969 Apr; 98(1):289-97. Brock TD, Freeze H. PMID: 5781580; PMCID: PMC249935.
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