{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:26:25Z","timestamp":1790943985316,"version":"4.1.0"},"reference-count":52,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2010,7,8]],"date-time":"2010-07-08T00:00:00Z","timestamp":1278547200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1001021","type":"journal-article","created":{"date-parts":[[2010,7,8]],"date-time":"2010-07-08T16:48:44Z","timestamp":1278607724000},"page":"e1001021","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":130,"title":["Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis"],"prefix":"10.1371","volume":"6","author":[{"given":"Juan","family":"Crespo-Barreto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John D.","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad A.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry T.","family":"Orr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda Y.","family":"Zoghbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2010,7,8]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1146\/annurev.neuro.29.051605.113042","article-title":"Trinucleotide repeat disorders.","volume":"30","author":"HT Orr","year":"2007","journal-title":"Annu Rev Neurosci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/nrg1691","article-title":"Diseases of unstable repeat expansion: mechanisms and common principles.","volume":"6","author":"JR Gatchel","year":"2005","journal-title":"Nat Rev Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1093\/hmg\/2.12.2063","article-title":"Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene.","volume":"2","author":"C Zuhlke","year":"1993","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3109\/01677060009084502","article-title":"The status of SCA1, MJD\/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls.","volume":"14","author":"D Keckarevic","year":"2000","journal-title":"J Neurogenet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1212\/WNL.49.4.1009","article-title":"The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.","volume":"49","author":"D Lorenzetti","year":"1997","journal-title":"Neurology"},{"key":"ref6","first-page":"95","article-title":"X-linked recessive bulbospinal neuronopathy (SBMA).","volume":"58","author":"G Sobue","year":"1995","journal-title":"Nagoya J Med Sci"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/ng0194-9","article-title":"Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).","volume":"6","author":"R Koide","year":"1994","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0896-6273(02)01190-X","article-title":"SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.","volume":"37","author":"SY Yoo","year":"2003","journal-title":"Neuron"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/S0896-6273(02)00733-X","article-title":"A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.","volume":"34","author":"K Watase","year":"2002","journal-title":"Neuron"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"11987","DOI":"10.1073\/pnas.0804350105","article-title":"Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.","volume":"105","author":"K Watase","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"13498","DOI":"10.1073\/pnas.212474399","article-title":"Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues.","volume":"99","author":"S Yeh","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng1095-155","article-title":"Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington&apos;s disease gene homologue.","volume":"11","author":"S Zeitlin","year":"1995","journal-title":"Nat Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"5508","DOI":"10.1523\/JNEUROSCI.18-14-05508.1998","article-title":"Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation.","volume":"18","author":"A Matilla","year":"1998","journal-title":"J Neurosci"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.bbrc.2005.10.186","article-title":"Generation and characterization of Sca2 (ataxin-2) knockout mice.","volume":"339","author":"TR Kiehl","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.cell.2005.06.012","article-title":"The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1\/Senseless proteins.","volume":"122","author":"H Tsuda","year":"2005","journal-title":"Cell"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0896-6273(03)00258-7","article-title":"Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.","volume":"38","author":"ES Emamian","year":"2003","journal-title":"Neuron"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0092-8674(00)81781-X","article-title":"Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.","volume":"95","author":"IA Klement","year":"1998","journal-title":"Cell"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1016\/j.cell.2006.11.038","article-title":"ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.","volume":"127","author":"YC Lam","year":"2006","journal-title":"Cell"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.1038\/sj.emboj.7600785","article-title":"Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.","volume":"24","author":"A Mizutani","year":"2005","journal-title":"EMBO J"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.cell.2006.09.036","article-title":"RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.","volume":"127","author":"HG Serra","year":"2006","journal-title":"Cell"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1016\/S0896-6273(03)00769-4","article-title":"RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways.","volume":"40","author":"DA Gold","year":"2003","journal-title":"Neuron"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S1574-3349(06)16010-X","article-title":"Retinoid-related Orphan Receptors (RORs): Roles in Cellular Differentiation and Development.","volume":"16","author":"AM Jetten","year":"2006","journal-title":"Adv Dev Biol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nature06731","article-title":"Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.","volume":"452","author":"J Lim","year":"2008","journal-title":"Nature"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/ng1977","article-title":"Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.","volume":"39","author":"AB Bowman","year":"2007","journal-title":"Nat Genet"},{"key":"ref25","first-page":"1","article-title":"Characterization of the Zebrafish atxn1\/axh Gene Family.","author":"KM Carlson","year":"2008","journal-title":"J Neurogenet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"2535","DOI":"10.1093\/hmg\/ddh268","article-title":"Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.","volume":"13","author":"HG Serra","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1073\/pnas.0711257105","article-title":"The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.","volume":"105","author":"JR Gatchel","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/72101","article-title":"Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.","volume":"3","author":"X Lin","year":"2000","journal-title":"Nat Neurosci"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/ddl136","article-title":"Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.","volume":"15","author":"M Kawamura-Saito","year":"2006","journal-title":"Hum Mol Genet"},{"key":"ref30","first-page":"5","article-title":"Spinocerebellar ataxia type 1.","volume":"3","author":"HY Zoghbi","year":"1995","journal-title":"Clin Neurosci"},{"key":"ref31","article-title":"Genetic instabilities and hereditary neurological diseases","author":"RD Wells","year":"1998"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/0092-8674(95)90273-2","article-title":"SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat.","volume":"82","author":"EN Burright","year":"1995","journal-title":"Cell"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0168-0102(95)00916-H","article-title":"Rotorod sensorimotor learning in cerebellar mutant mice.","volume":"22","author":"R Lalonde","year":"1995","journal-title":"Neurosci Res"},{"key":"ref34","first-page":"xvi, 523","article-title":"What&apos;s wrong with my mouse? : behavioral phenotyping of transgenic and knockout mice","author":"JN Crawley","year":"2007"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1093\/hmg\/ddm162","article-title":"Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.","volume":"16","author":"R Goold","year":"2007","journal-title":"Hum Mol Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1007\/s001090050370","article-title":"Type 1 inositol 1,4,5-trisphosphate receptor knock-out mice: their phenotypes and their meaning in neuroscience and clinical practice.","volume":"77","author":"M Matsumoto","year":"1999","journal-title":"J Mol Med"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1523\/JNEUROSCI.4473-03.2004","article-title":"Climbing fiber activation of EAAT4 transporters and kainate receptors in cerebellar Purkinje cells.","volume":"24","author":"YH Huang","year":"2004","journal-title":"J Neurosci"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/0092-8674(94)90205-4","article-title":"Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice.","volume":"79","author":"A Aiba","year":"1994","journal-title":"Cell"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1093\/hmg\/ddl148","article-title":"Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.","volume":"15","author":"PS Thomas Jr","year":"2006","journal-title":"Hum Mol Genet"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1093\/hmg\/ddi147","article-title":"Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease.","volume":"14","author":"JM Van Raamsdonk","year":"2005","journal-title":"Hum Mol Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/1471-2202-7-80","article-title":"Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease.","volume":"7","author":"JM Van Raamsdonk","year":"2006","journal-title":"BMC Neurosci"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/81593","article-title":"Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice.","volume":"26","author":"I Dragatsis","year":"2000","journal-title":"Nat Genet"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.1093\/hmg\/10.22.2515","article-title":"The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.","volume":"10","author":"W Auerbach","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.cell.2004.06.018","article-title":"Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.","volume":"118","author":"LR Gauthier","year":"2004","journal-title":"Cell"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1126\/science.1059581","article-title":"Loss of huntingtin-mediated BDNF gene transcription in Huntington&apos;s disease.","volume":"293","author":"C Zuccato","year":"2001","journal-title":"Science"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/ng1219","article-title":"Huntingtin interacts with REST\/NRSF to modulate the transcription of NRSE-controlled neuronal genes.","volume":"35","author":"C Zuccato","year":"2003","journal-title":"Nat Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.cell.2006.04.026","article-title":"Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin.","volume":"125","author":"RK Graham","year":"2006","journal-title":"Cell"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.neurobiolaging.2004.02.026","article-title":"Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background.","volume":"26","author":"DE Cabin","year":"2005","journal-title":"Neurobiol Aging"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000105156","article-title":"Current insights into molecular mechanisms of Alzheimer disease and their implications for therapeutic approaches.","volume":"4","author":"B Van Broeck","year":"2007","journal-title":"Neurodegener Dis"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1002\/jnr.21601","article-title":"Loss of presenilin function causes Alzheimer&apos;s disease-like neurodegeneration in the mouse.","volume":"86","author":"Q Chen","year":"2008","journal-title":"J Neurosci Res"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/sj.embor.7400897","article-title":"Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.","volume":"8","author":"B De Strooper","year":"2007","journal-title":"EMBO Rep"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.1153252","article-title":"MeCP2, a key contributor to neurological disease, activates and represses transcription.","volume":"320","author":"M Chahrour","year":"2008","journal-title":"Science"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1001021","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T18:29:00Z","timestamp":1559240940000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1001021"}},"subtitle":[],"editor":[{"given":"Gregory S.","family":"Barsh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2010,7,8]]},"references-count":52,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2010,7,8]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1001021","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,8]]}}}