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Hudson Freeze

Title(s)Adjunct Professor, Medicine
SchoolHealth Sciences
Phone858-646-3142
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    Collapse Research 
    Collapse Research Activities and Funding
    New Congenital Disorders of Glycosylation: Therapy and Models
    NIH/NIDDK R01DK099551May 1, 2014 - Apr 30, 2019
    Role: Principal Investigator
    An Expanded Spectrum for Congenital Disorders of Glycosylation
    NIH/NICHD R21HD076358Aug 1, 2013 - Jul 31, 2015
    Role: Principal Investigator
    Novel Therapy for a Human Glycosylation Disorder
    NIH/NICHD R21HD062914Apr 15, 2010 - Mar 31, 2012
    Role: Principal Investigator
    Testing Substrate-Flux Therapies for Glycosylation Disorders using Zebrafish
    NIH/NICHD RC1HD064159Sep 30, 2009 - Aug 31, 2012
    Role: Principal Investigator
    Factors Determining Protein Losing Enteropathy
    NIH/NHLBI R01HL086987Apr 1, 2009 - Sep 30, 2013
    Role: Principal Investigator
    Therapeutic Inhibitors of Phosphomannose Isomerase
    NIH/NIMH R03MH082386Jan 15, 2008 - Jan 31, 2010
    Role: Principal Investigator
    Basis of Post-Fontan Protein Losing Enteropathy
    NIH/NHLBI R21HL078997Dec 15, 2004 - Nov 30, 2007
    Role: Principal Investigator
    Human Glycosylation Disorders 2003
    NIH/NIDDK R13DK067195Mar 5, 2004 - Feb 28, 2005
    Role: Principal Investigator
    Novel Approaches to Mend Deficient Glycosylation
    NIH/NIDDK R01DK065091Aug 1, 2003 - May 31, 2007
    Role: Principal Investigator
    Novel Carboxylated Glycans in Cell Adhesion
    NIH/NCI R01CA092608Jul 1, 2002 - Jun 30, 2008
    Role: Principal Investigator
    Novel Carboxylated N-Glycans that Mediate Inflammation
    NIH/NIGMS R21GM065323Apr 1, 2002 - Mar 31, 2005
    Role: Principal Investigator
    CONGENITAL DISORDERS OF GLYCOSYLATION 2000
    NIH/NIDDK R13DK058995Sep 30, 2000 - Sep 29, 2001
    Role: Principal Investigator
    Carbohydrate Deficient Glycoprotein Syndromes: Models and Therapy
    NIH/NIDDK R01DK055615Aug 1, 1999 - Mar 31, 2014
    Role: Principal Investigator
    MANNOSE IN MAMMALIAN GLYCOPROTEIN SYNTHESIS
    NIH/NIGMS R01GM055695Feb 1, 1998 - Jan 31, 2003
    Role: Principal Investigator
    GENES OF PHOSPHORYLATED OLIGOSACCHARIDE BIOSYNTHESIS
    NIH/NIGMS R01GM049096Apr 1, 1993 - Mar 31, 1998
    Role: Principal Investigator
    OLIGOSACCHARIDES OF LYSOSOMAL ENZYMES IN SLIME MOLD
    NIH/NIGMS R01GM032485Sep 1, 1983 - Mar 31, 1999
    Role: Principal Investigator

    Collapse Bibliographic 
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    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.
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    1. 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. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Hum Mutat. 2019 Feb 28. PMID: 30817854.
      View in: PubMed
    2. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 Jan 24. PMID: 30676690.
      View in: PubMed
    3. 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, Ng BG, Freeze HH, Lefeber DJ, Õunap K. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. J Inherit Metab Dis. 2019 Jan 12. PMID: 30746764.
      View in: PubMed
    4. 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. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan; 42(1):5-28. PMID: 30740725.
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    5. Chang IJ, Byers HM, Ng BG, Merritt JL, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. Factor VIII and vWF deficiency in STT3A-CDG. J Inherit Metab Dis. 2018 Dec 27. PMID: 30701557.
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    6. Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR. Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. Pediatr Neurol. 2018 Dec 24. PMID: 30770273.
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    7. Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. Am J Hum Genet. 2018 Dec 06; 103(6):1030-1037. PMID: 30503518.
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    8. 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, 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. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 Oct 04; 103(4):553-567. PMID: 30290151.
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    9. Sharma V, Smolin J, Nayak J, Ayala JE, Scott DA, Peterson SN, Freeze HH. Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism. Cell Rep. 2018 Sep 18; 24(12):3087-3098. PMID: 30231992.
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    10. Nguyen D, Stutz R, Schorr S, Lang S, Pfeffer S, Freeze HH, Förster F, Helms V, Dudek J, Zimmermann R. Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import. Nat Commun. 2018 09 14; 9(1):3765. PMID: 30217974.
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    11. 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, Freeze HH, Eklund EA. DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. JIMD Rep. 2019; 44:85-92. PMID: 30117111.
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    12. Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS. 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. PMID: 29452367.
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    13. Joshi HJ, Hansen L, Narimatsu Y, Freeze HH, Henrissat B, Bennett E, Wandall HH, Clausen H, Schjoldager KT. 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. PMID: 29579191.
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    14. Greer S, Alexander H, Baldwin TO, Freeze HH, Thompson M, Hunt G, Snowflack DR. The Art of Science Communication-A Novel Approach to Science Communication Training. J Microbiol Biol Educ. 2018; 19(1). PMID: 29904522.
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    15. Ng BG, Freeze HH. Perspectives on Glycosylation and Its Congenital Disorders. Trends Genet. 2018 Jun; 34(6):466-476. PMID: 29606283.
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    16. 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. Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. Mol Genet Metab. 2018 05; 124(1):82-86. PMID: 29550355.
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    17. Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA. Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. Orphanet J Rare Dis. 2018 Jan 10; 13(1):4. PMID: 29321044.
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    18. 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. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet. 2018 01 04; 102(1):188-195. PMID: 29304374.
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    19. Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, Ensslen M, Freeze HH. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. Am J Med Genet A. 2017 Nov; 173(11):2906-2911. PMID: 28856833.
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    20. Silberberg SD, Crawford DC, Finkelstein R, Koroshetz WJ, Blank RD, Freeze HH, Garrison HH, Seger YR. Shake up conferences. Nature. 2017 08 09; 548(7666):153-154. PMID: 28796229.
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    21. 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. MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect. Elife. 2017 06 23; 6. PMID: 28644127.
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    22. Schnaar RL, Freeze HH. A "Glyconutrient Sham" and the Jenner Glycobiology and Medicine Symposium. Glycobiology. 2017 05 01; 27(5):383-384. PMID: 28384366.
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    23. Pfeffer S, Dudek J, Schaffer M, Ng BG, Albert S, Plitzko JM, Baumeister W, Zimmermann R, Freeze HH, Engel BD, Förster F. Dissecting the molecular organization of the translocon-associated protein complex. Nat Commun. 2017 02 20; 8:14516. PMID: 28218252.
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    24. Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JLK, Freeze HH, Abdenur JE. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90. PMID: 28216230.
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    25. Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. 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. PMID: 27480077.
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    26. Freeze HH. Perhaps a wee bit of sugar would help. Nat Genet. 2016 06 28; 48(7):705-7. PMID: 27350601.
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    27. Harshman LA, Ng BG, Freeze HH, Trapane P, Dolezal A, Brophy PD, Brumbaugh JE. Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. Pediatr Int. 2016 Aug; 58(8):785-8. PMID: 27325525; PMCID: PMC4996748 [Available on 08/01/17].
    28. 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. 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. PMID: 27053713.
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    29. 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, Matthijs G, Freeze HH. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat. 2016 07; 37(7):653-60. PMID: 26931382; PMCID: PMC4907823.
    30. 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. trappc11 is required for protein glycosylation in zebrafish and humans. Mol Biol Cell. 2016 Apr 15; 27(8):1220-34. PMID: 26912795.
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    31. Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. Am J Hum Genet. 2016 Feb 04; 98(2):339-46. PMID: 26805780; PMCID: PMC4746335.
    32. Lau E, Feng Y, Claps G, Fukuda MN, Perlina A, Donn D, Jilaveanu L, Kluger H, Freeze HH, Ronai ZA. The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation. Sci Signal. 2015 Dec 08; 8(406):ra124. PMID: 26645581; PMCID: PMC4818095.
    33. 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. Symbol Nomenclature for Graphical Representations of Glycans. Glycobiology. 2015 Dec; 25(12):1323-4. PMID: 26543186; PMCID: PMC4643639 [Available on 12/01/16].
    34. 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. 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. PMID: 26430078; PMCID: PMC4819965.
    35. Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA. 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. PMID: 26335155.
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    36. Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat. 2015 Nov; 36(11):1048-51. PMID: 26264460; PMCID: PMC4604052 [Available on 11/01/16].
    37. He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH. A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 25(8):836-44. PMID: 25900930; PMCID: PMC4487302.
    38. Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurological aspects of human glycosylation disorders. Annu Rev Neurosci. 2015 Jul 08; 38:105-25. PMID: 25840006; PMCID: PMC4809143.
    39. Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum Mol Genet. 2015 Jun 01; 24(11):3050-7. PMID: 25678555; PMCID: PMC4424951.
    40. Hansen L, Lind-Thomsen A, Joshi HJ, Pedersen NB, Have CT, Kong Y, Wang S, Sparso T, Grarup N, Vester-Christensen MB, Schjoldager K, Freeze HH, Hansen T, Pedersen O, Henrissat B, Mandel U, Clausen H, Wandall HH, Bennett EP. A glycogene mutation map for discovery of diseases of glycosylation. Glycobiology. 2015 Feb; 25(2):211-24. PMID: 25267602; PMCID: PMC4351397.
    41. Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet. 2015 Jan; 58(1):39-43. PMID: 25220016; PMCID: PMC4804755.
    42. Ng BG, Freeze HH. Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL). J Inherit Metab Dis. 2015 Jan; 38(1):171-8. PMID: 25164783.
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    43. Sharma V, Ichikawa M, Freeze HH. Mannose metabolism: more than meets the eye. Biochem Biophys Res Commun. 2014 Oct 17; 453(2):220-8. PMID: 24931670; PMCID: PMC4252654.
    44. Bahena-Bahena D, López-Valdez J, Raymond K, Salinas-Marín R, Ortega-García A, Ng BG, Freeze HH, Ruíz-García M, Martínez-Duncker I. 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. PMID: 27896089.
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    45. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8. PMID: 24651605; PMCID: PMC4243708.
    46. Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014 May; 133(5):1400-9, 1409.e1-5. PMID: 24589341.
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    47. Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet. 2014 Feb 06; 94(2):161-75. PMID: 24507773; PMCID: PMC3928651.
    48. Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 06; 370(6):533-42. PMID: 24499211; PMCID: PMC4373661.
    49. He P, Srikrishna G, Freeze HH. N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. Glycobiology. 2014 Apr; 24(4):392-8. PMID: 24474243; PMCID: PMC3954120.
    50. 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. Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J. 2014 Apr; 28(4):1854-69. PMID: 24421398; PMCID: PMC3963023.
    51. Ichikawa M, Scott DA, Losfeld ME, Freeze HH. The metabolic origins of mannose in glycoproteins. J Biol Chem. 2014 Mar 07; 289(10):6751-61. PMID: 24407290; PMCID: PMC3945336.
    52. Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H. 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. PMID: 24305089; PMCID: PMC3907076.
    53. Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH. 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. PMID: 24218363; PMCID: PMC3929095.
    54. Harada Y, Nakajima K, Masahara-Negishi Y, Freeze HH, Angata T, Taniguchi N, Suzuki T. Metabolically programmed quality control system for dolichol-linked oligosaccharides. Proc Natl Acad Sci U S A. 2013 Nov 26; 110(48):19366-71. PMID: 24218558; PMCID: PMC3845098.
    55. Cottam NP, Wilson KM, Ng BG, Körner C, Freeze HH, Ungar D. Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic. 2014 Jan; 15(1):12-21. PMID: 24102787; PMCID: PMC3892563.
    56. Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9. PMID: 24144945; PMCID: PMC3909743.
    57. Laufman O, Freeze HH, Hong W, Lev S. 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. PMID: 23865579; PMCID: PMC4084554.
    58. Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15; 22(22):4638-45. PMID: 23842455; PMCID: PMC3888133.
    59. Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013 Nov; 110(3):345-351. PMID: 23856421; PMCID: PMC3800268.
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    206. Pörtner A, Etchison JR, Sampath D, Freeze HH. 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. PMID: 8991512.
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