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Albert La Spada

TitleAdjunct Professor
InstitutionUniversity of California San Diego
DepartmentPediatrics
Address9500 Gilman Drive #0642
La Jolla CA 92093
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    Collapse Overview 
    Collapse Overview
    Our laboratory applies the tools of molecular genetics, neuroscience, and functional genomics to understand mechanisms of neurodegenerative disease. My research program is focused upon human genetic diseases caused by expansions of trinucleotide repeats, including Huntington’s disease, spinobulbar muscular atrophy, and spinocerebellar ataxia type 7. We have found that transcription dysregulation and activation of apoptosis / autophagy are important in neurological disease. We have learned that protease function and proteolytic cleavage regulate key events in pathogenesis. Our goal is to define molecular and cellular pathways by which neurons become dysfunctional and use this knowledge to devise rational therapies.

    Research Focus Areas:



    Collapse Research 
    Collapse Research Activities and Funding
    Enhanced skeletal muscle proteostasis as a determinant of CNS protein quality control and neural function in the aging brain
    NIH/NIA RF1AG057264Sep 15, 2017 - Jun 30, 2022
    Role: Principal Investigator
    Deconstructing the cellular and molecular basis of SBMA motor neuron disease: From mechanism to therapy
    NIH/NINDS R01NS100023Sep 30, 2016 - Aug 30, 2021
    Role: Principal Investigator
    Ataxin-7 oligonucleotide knock-down to treat SCA7 retinal and cerebellar disease
    NIH/NEI R01EY024747Aug 1, 2014 - Jul 31, 2018
    Role: Principal Investigator
    Antisense oligonucleotide knock-down of ataxin-7 in a SCA7 mouse model
    NIH/NINDS R21NS082112Sep 30, 2012 - Aug 31, 2014
    Role: Principal Investigator
    Huntington's Disease Natural Product Drug Discovery
    NIH/NIA R21AG038772Sep 1, 2011 - Aug 31, 2014
    Role: Principal Investigator
    Neuronal RNA processing defects in ALS4 caused by SETX mutations
    NIH/NIGMS R01GM094384Aug 1, 2010 - Jul 31, 2015
    Role: Principal Investigator
    The PPAR-delta pathway in neural function and Huntington's disease neuropathology
    NIH/NINDS R01NS065874Feb 1, 2010 - Jan 31, 2021
    Role: Principal Investigator
    Molecular genetic regulation of autophagy in health and neurodegenerative disease
    NIH/NIA R01AG033082Dec 1, 2008 - May 31, 2020
    Role: Principal Investigator
    Non-cell autonomous neurodegeneration in SCA7
    NIH/NINDS R01NS052535Sep 15, 2008 - Aug 31, 2012
    Role: Principal Investigator
    ROLE OF Nna1 IN RETINAL AND CEREBELLAR DEGENERATION
    NIH/NEI R01EY014997Jul 1, 2003 - May 31, 2014
    Role: Principal Investigator
    SCA7 neurodegeneration: molecular epigenetic basis and therapy development
    NIH/NEI R01EY014061May 1, 2002 - Feb 28, 2017
    Role: Principal Investigator
    MODELS OF SBMA MOTOR NEURON DEGENERATION
    NIH/NINDS R01NS041648Jun 1, 2001 - Aug 31, 2015
    Role: Principal Investigator
    CCCTC-binding factor (CTCF) in trinucleotide repeat instability and disease
    NIH/NIGMS R01GM059356May 1, 1999 - Jan 31, 2013
    Role: Principal Investigator
    Comprehensive Biology: Exploiting the Yeast Genome
    NIH P41RR011823Sep 30, 1996 - Jun 30, 2016
    Role: Co-Investigator
    Research in Intellectual and Developmental Disabilities
    NIH P30HD002274Sep 1, 1977 - Jun 30, 2014
    Role: Co-Investigator

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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. Cortes CJ, La Spada A. TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities. Neurobiol Dis. 2018 May 28. PMID: 29852219.
      View in: PubMed
    2. Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada A. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018 May 03. PMID: 29725819.
      View in: PubMed
    3. Mihaylova MM, Cheng CW, Cao AQ, Tripathi S, Mana MD, Bauer-Rowe KE, Abu-Remaileh M, Clavain L, Erdemir A, Lewis CA, Freinkman E, Dickey AS, La Spada A, Huang Y, Bell GW, Deshpande V, Carmeliet P, Katajisto P, Sabatini DM, Yilmaz ÖH. Fasting Activates Fatty Acid Oxidation to Enhance Intestinal Stem Cell Function during Homeostasis and Aging. Cell Stem Cell. 2018 May 03; 22(5):769-778.e4. PMID: 29727683.
      View in: PubMed
    4. Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, Tillman H, Chen PC, Wang Y, Freeman BB, Li Y, Kim HJ, La Spada A, Taylor JP. Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy. Nat Med. 2018 05; 24(4):427-437. PMID: 29505030.
      View in: PubMed
    5. Hsu CL, Lee EX, Gordon KL, Paz EA, Shen WC, Ohnishi K, Meisenhelder J, Hunter T, La Spada A. MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB. Nat Commun. 2018 03 05; 9(1):942. PMID: 29507340.
      View in: PubMed
    6. La Spada A, Ntai A, Genovese S, Rondinelli M, De Blasio P, Biunno I. Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103?+?1G>A CISD2 Mutation for Disease Modeling. Stem Cells Dev. 2018 Feb 15; 27(4):287-295. PMID: 29239282.
      View in: PubMed
    7. Stoyas CA, La Spada A. The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology. Handb Clin Neurol. 2018; 147:143-170. PMID: 29325609.
      View in: PubMed
    8. Cortes CJ, La Spada A. X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity. Adv Exp Med Biol. 2018; 1049:103-133. PMID: 29427100.
      View in: PubMed
    9. Bennett CL, La Spada A. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. Adv Neurobiol. 2018; 20:265-281. PMID: 29916023.
      View in: PubMed
    10. Zhao H, Perkins GA, Yao H, Callacondo D, Appenzeller O, Ellisman M, La Spada A, Haddad GG. MITOCHONDRIAL DYSFUNCTION IN IPSC-DERIVED NEURONS OF SUBJECTS WITH CHRONIC MOUNTAIN SICKNESS. J Appl Physiol (1985). 2017 Dec 21. PMID: 29357502.
      View in: PubMed
    11. Dickey AS, La Spada A. Therapy development in Huntington disease: From current strategies to emerging opportunities. Am J Med Genet A. 2018 Apr; 176(4):842-861. PMID: 29218782.
      View in: PubMed
    12. Dickey AS, Sanchez DN, Arreola M, Sampat KR, Fan W, Arbez N, Akimov S, Van Kanegan MJ, Ohnishi K, Gilmore-Hall SK, Flores AL, Nguyen JM, Lomas N, Hsu CL, Lo DC, Ross CA, Masliah E, Evans RM, La Spada A. PPARd activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis. Sci Transl Med. 2017 Dec 06; 9(419). PMID: 29212711.
      View in: PubMed
    13. Mason AG, Garza RM, McCormick MA, Patel B, Kennedy BK, Pillus L, La Spada A. The replicative lifespan-extending deletion of SGF73 results in altered ribosomal gene expression in yeast. Aging Cell. 2017 Aug; 16(4):785-796. PMID: 28568901.
      View in: PubMed
    14. Baronchelli S, La Spada A, Ntai A, Barbieri A, Conforti P, Jotti GS, Redaelli S, Bentivegna A, De Blasio P, Biunno I. Epigenetic and transcriptional modulation of WDR5, a chromatin remodeling protein, in Huntington's disease human induced pluripotent stem cell (hiPSC) model. Mol Cell Neurosci. 2017 Jul; 82:46-57. PMID: 28476540.
      View in: PubMed
    15. Ntai A, Baronchelli S, La Spada A, Moles A, Guffanti A, De Blasio P, Biunno I. A Review of Research-Grade Human Induced Pluripotent Stem Cells Qualification and Biobanking Processes. Biopreserv Biobank. 2017 Aug; 15(4):384-392. PMID: 28388226.
      View in: PubMed
    16. Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, La Spada A, Sambataro F, Fischbeck KH, Gozes I, Pennuto M. Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy. Sci Transl Med. 2016 12 21; 8(370):370ra181. PMID: 28003546.
      View in: PubMed
    17. Blessing AM, Rajapakshe K, Reddy Bollu L, Shi Y, White MA, Pham AH, Lin C, Jonsson P, Cortes CJ, Cheung E, La Spada A, Bast RC, Merchant FA, Coarfa C, Frigo DE. Transcriptional regulation of core autophagy and lysosomal genes by the androgen receptor promotes prostate cancer progression. Autophagy. 2017 Mar 04; 13(3):506-521. PMID: 27977328.
      View in: PubMed
    18. La Spada A, Baronchelli S, Ottoboni L, Ruffini F, Martino G, Convertino N, Ntai A, Steiner T, Biunno I, De Blasio A. Cell Line Macroarray: An Alternative High-Throughput Platform to Analyze hiPSC Lines. J Histochem Cytochem. 2016 12; 64(12):739-751. PMID: 27798288.
      View in: PubMed
    19. Tsai SY, Rodriguez AA, Dastidar SG, Del Greco E, Carr KL, Sitzmann JM, Academia EC, Viray CM, Martinez LL, Kaplowitz BS, Ashe TD, La Spada A, Kennedy BK. Increased 4E-BP1 Expression Protects against Diet-Induced Obesity and Insulin Resistance in Male Mice. Cell Rep. 2016 08 16; 16(7):1903-14. PMID: 27498874; PMCID: PMC4988876.
    20. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222. PMID: 26799652.
      View in: PubMed
    21. Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Torres MJ, Flores AL, Arreola M, Arbez N, Akimov SS, Gaasterland T, Lazarowski ER, Ross CA, Yeo GW, Sopher BL, Magnuson GK, Pinkerton AB, Masliah E, La Spada A. PPAR-d is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically. Nat Med. 2016 Jan; 22(1):37-45. PMID: 26642438; PMCID: PMC4752002.
    22. Todd TW, Kokubu H, Miranda HC, Cortes CJ, La Spada A, Lim J. Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy. Elife. 2015 Aug 26; 4:e08493. PMID: 26308581; PMCID: PMC4577982.
    23. Baronchelli S, La Spada A, Conforti P, Redaelli S, Dalprà L, De Blasio P, Cattaneo E, Biunno I. Investigating DNA methylation dynamics and safety of human embryonic stem cell differentiation toward striatal neurons. Stem Cells Dev. 2015 Oct 15; 24(20):2366-77. PMID: 26132372.
      View in: PubMed
    24. Tsai S, Sitzmann JM, Dastidar SG, Rodriguez AA, Vu SL, McDonald CE, Academia EC, O'Leary MN, Ashe TD, La Spada A, Kennedy BK. Muscle-specific 4E-BP1 signaling activation improves metabolic parameters during aging and obesity. J Clin Invest. 2015 Aug 03; 125(8):2952-64. PMID: 26121750; PMCID: PMC4563739.
    25. D'Urso DG, La Spada A, Tramonte T, Rainoldi B, De Blasio A. Evaluation of cross-sample contamination in tissue microarrays by polymerase chain reaction. Biopreserv Biobank. 2015 Jun; 13(3):219-23. PMID: 26035013.
      View in: PubMed
    26. Guyenet SJ, Mookerjee SS, Lin A, Custer SK, Chen SF, Sopher BL, La Spada A, Ellerby LM. Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet. 2015 Jul 15; 24(14):3908-17. PMID: 25859008; PMCID: PMC4476441.
    27. Cortes CJ, La Spada A. Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos? Mol Cell Neurosci. 2015 May; 66(Pt A):53-61. PMID: 25771431; PMCID: PMC4449833.
    28. Bennett CL, La Spada A. Unwinding the role of senataxin in neurodegeneration. Discov Med. 2015 Feb; 19(103):127-36. PMID: 25725227.
      View in: PubMed
    29. Ward JM, La Spada A. Ataxin-3, DNA damage repair, and SCA3 cerebellar degeneration: on the path to parsimony? PLoS Genet. 2015 Jan; 11(1):e1004937. PMID: 25633989; PMCID: PMC4310603.
    30. Cortes CJ, La Spada A. Motor neuron degeneration in spinal and Bulbar Muscular Atrophy is a skeletal muscle-driven process: Relevance to therapy development and implications for related motor neuron diseases. Rare Dis. 2014; 2(1):e962402. PMID: 26942099; PMCID: PMC4755247.
    31. Dubinsky AN, Dastidar SG, Hsu CL, Zahra R, Djakovic SN, Duarte S, Esau CC, Spencer B, Ashe TD, Fischer KM, MacKenna DA, Sopher BL, Masliah E, Gaasterland T, Chau BN, Pereira de Almeida L, Morrison BE, La Spada A. Let-7 coordinately suppresses components of the amino acid sensing pathway to repress mTORC1 and induce autophagy. Cell Metab. 2014 Oct 07; 20(4):626-38. PMID: 25295787; PMCID: PMC4245205.
    32. Ward JM, La Spada A. Identification of the SCA21 disease gene: remaining challenges and promising opportunities. Brain. 2014 Oct; 137(Pt 10):2626-8. PMID: 25217789; PMCID: PMC4163037.
    33. Cortes CJ, Miranda HC, Frankowski H, Batlevi Y, Young JE, Le A, Ivanov N, Sopher BL, Carromeu C, Muotri AR, Garden GA, La Spada A. Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. Nat Neurosci. 2014 Sep; 17(9):1180-9. PMID: 25108912; PMCID: PMC4180729.
    34. La Spada A. Something wicked this way comes: huntingtin. Nat Neurosci. 2014 Aug; 17(8):1014-5. PMID: 25065434.
      View in: PubMed
    35. McCormick MA, Mason AG, Guyenet SJ, Dang W, Garza RM, Ting MK, Moller RM, Berger SL, Kaeberlein M, Pillus L, La Spada A, Kennedy BK. The SAGA histone deubiquitinase module controls yeast replicative lifespan via Sir2 interaction. Cell Rep. 2014 Jul 24; 8(2):477-86. PMID: 25043177; PMCID: PMC4284099.
    36. Sekiyama K, Waragai M, Akatsu H, Sugama S, Takenouchi T, Takamatsu Y, Fujita M, Sekigawa A, Rockenstein E, Inoue S, La Spada A, Masliah E, Hashimoto M. Disease-Modifying Effect of Adiponectin in Model of a-Synucleinopathies. Ann Clin Transl Neurol. 2014 Jul 03; 1(7):479-489. PMID: 25126588.
      View in: PubMed
    37. La Spada A, Rainoldi B, De Blasio A, Biunno I. Application of Tissue Microarray Technology to Stem Cell Research. Microarrays (Basel). 2014 Jun 26; 3(3):159-67. PMID: 27600341; PMCID: PMC4996362.
    38. Ramachandran PS, Boudreau RL, Schaefer KA, La Spada A, Davidson BL. Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Mol Ther. 2014 Sep; 22(9):1635-42. PMID: 24930601; PMCID: PMC4435484.
    39. Montague K, Malik B, Gray AL, La Spada A, Hanna MG, Szabadkai G, Greensmith L. Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy. Brain. 2014 Jul; 137(Pt 7):1894-906. PMID: 24898351; PMCID: PMC4065020.
    40. Cortes CJ, Ling SC, Guo LT, Hung G, Tsunemi T, Ly L, Tokunaga S, Lopez E, Sopher BL, Bennett CF, Shelton GD, Cleveland DW, La Spada A. Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. Neuron. 2014 Apr 16; 82(2):295-307. PMID: 24742458.
      View in: PubMed
    41. Lieberman AP, Yu Z, Murray S, Peralta R, Low A, Guo S, Yu XX, Cortes CJ, Bennett CF, Monia BP, La Spada A, Hung G. Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy. Cell Rep. 2014 May 08; 7(3):774-84. PMID: 24746732; PMCID: PMC4356525.
    42. Cortes CJ, La Spada A. The many faces of autophagy dysfunction in Huntington's disease: from mechanism to therapy. Drug Discov Today. 2014 Jul; 19(7):963-71. PMID: 24632005; PMCID: PMC4096219.
    43. Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada A. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PLoS One. 2013; 8(11):e78837. PMID: 24244371.
      View in: PubMed
    44. Mason AG, Tomé S, Simard JP, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE, La Spada A. Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age. Hum Mol Genet. 2014 Mar 15; 23(6):1606-18. PMID: 24191263; PMCID: PMC3929096.
    45. Sekigawa A, Sekiyama K, Fujita M, Takamatsu Y, La Spada A, Masliah E, Hashimoto M. Dual effects of ß-synuclein on the pathogenesis of Parkinson disease. Ann Neurol. 2013 Aug; 74(2):306. PMID: 23836414.
      View in: PubMed
    46. Haun F, Nakamura T, Shiu AD, Cho DH, Tsunemi T, Holland EA, La Spada A, Lipton SA. S-nitrosylation of dynamin-related protein 1 mediates mutant huntingtin-induced mitochondrial fragmentation and neuronal injury in Huntington's disease. Antioxid Redox Signal. 2013 Oct 10; 19(11):1173-84. PMID: 23641925; PMCID: PMC3785802.
    47. Malik B, Nirmalananthan N, Gray AL, La Spada A, Hanna MG, Greensmith L. Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Brain. 2013 Mar; 136(Pt 3):926-43. PMID: 23393146; PMCID: PMC3624668.
    48. Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, Sasabe T, Katsuta A, Motoki K, Shiwaku H, Sone M, Yoshida C, Katsuno M, Eishi Y, Murata M, Taylor JP, Wanker EE, Kono K, Tashiro S, Sobue G, La Spada A, Okazawa H. A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases. Nat Commun. 2013; 4:1816. PMID: 23652004; PMCID: PMC4543262.
    49. Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada A. Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Hum Mol Genet. 2013 Mar 01; 22(5):890-903. PMID: 23197655; PMCID: PMC3561911.
    50. Fratta P, Malik B, Gray A, La Spada A, Hanna MG, Fisher EM, Greensmith L. FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiol Aging. 2013 May; 34(5):1516.e17-9. PMID: 23062703.
      View in: PubMed
    51. Sekigawa A, Fujita M, Sekiyama K, Takamatsu Y, Hatano T, Rockenstein E, La Spada A, Masliah E, Hashimoto M. Distinct mechanisms of axonal globule formation in mice expressing human wild type a-synuclein or dementia with Lewy bodies-linked P123H ß-synuclein. Mol Brain. 2012 Sep 26; 5:34. PMID: 23013868; PMCID: PMC3546907.
    52. Ward JM, La Spada A. The expanding world of stem cell modeling of Huntington's disease: creating tools with a promising future. Genome Med. 2012; 4(8):68. PMID: 22943447; PMCID: PMC3580403.
    53. La Spada A. PPARGC1A/PGC-1a, TFEB and enhanced proteostasis in Huntington disease: defining regulatory linkages between energy production and protein-organelle quality control. Autophagy. 2012 Dec; 8(12):1845-7. PMID: 22932698; PMCID: PMC3541300.
    54. Tsunemi T, Ashe TD, Morrison BE, Soriano KR, Au J, Roque RA, Lazarowski ER, Damian VA, Masliah E, La Spada A. PGC-1a rescues Huntington's disease proteotoxicity by preventing oxidative stress and promoting TFEB function. Sci Transl Med. 2012 Jul 11; 4(142):142ra97. PMID: 22786682; PMCID: PMC4096245.
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