{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:25:39Z","timestamp":1790943939668,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,6,1]],"date-time":"2012-06-01T00:00:00Z","timestamp":1338508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"NIH\/NINDS","award":["NS22920-23"],"award-info":[{"award-number":["NS22920-23"]}]},{"name":"NIH\/NINDS","award":["NS45667-09"],"award-info":[{"award-number":["NS45667-09"]}]}],"content-domain":{"domain":["bmn.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Genetics & Development"],"published-print":{"date-parts":[[2012,6]]},"DOI":"10.1016\/j.gde.2012.01.001","type":"journal-article","created":{"date-parts":[[2012,1,29]],"date-time":"2012-01-29T14:52:55Z","timestamp":1327848775000},"page":"251-255","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":71,"title":["Polyglutamine neurodegeneration: expanded glutamines enhance native functions"],"prefix":"10.1016","volume":"22","author":[{"given":"Harry T","family":"Orr","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gde.2012.01.001_bib0005","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"La Spada","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.gde.2012.01.001_bib0010","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1146\/annurev.neuro.29.051605.113042","article-title":"Trinucleotide repeat disorders","volume":"30","author":"Orr","year":"2007","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.gde.2012.01.001_bib0015","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":"Gatxhel","year":"2005","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.gde.2012.01.001_bib0020","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1212\/WNL.18.7.671","article-title":"Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait","volume":"18","author":"Kennedy","year":"1968","journal-title":"Neurology"},{"key":"10.1016\/j.gde.2012.01.001_bib0025","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1212\/WNL.59.5.770","article-title":"Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women","volume":"59","author":"Schmidt","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.gde.2012.01.001_bib0030","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/S0896-6273(02)00834-6","article-title":"Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy","volume":"35","author":"Katsuno","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0035","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/S0896-6273(02)00875-9","article-title":"Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila","volume":"35","author":"Takeyama","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0040_1","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/j.neuron.2010.08.034","article-title":"Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy","volume":"67","author":"Nedelsky","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0045","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng0793-221","article-title":"Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1","volume":"4","author":"Orr","year":"1993","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2012.01.001_bib0050","doi-asserted-by":"crossref","first-page":"3758","DOI":"10.1074\/jbc.M309817200","article-title":"The structure of the AXH domain of spinocerebellar ataxin-1","volume":"279","author":"Chen","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.gde.2012.01.001_bib0055","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":"Klement","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0060","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S0092-8674(03)00349-0","article-title":"Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1","volume":"113","author":"Chen","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0065_1","doi-asserted-by":"crossref","first-page":"e8372","DOI":"10.1371\/journal.pone.0008372","article-title":"Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors","volume":"4","author":"de Chiara","year":"2009","journal-title":"PLoS ONE"},{"key":"10.1016\/j.gde.2012.01.001_bib0070_1","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":"Lim","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.gde.2012.01.001_bib0075","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1016\/j.cell.2006.11.038","article-title":"Mutant ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology","volume":"127","author":"Lam","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0080_1","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1126\/science.1212673","article-title":"Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua","volume":"334","author":"Fryer","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.gde.2012.01.001_bib0085","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":"Emamian","year":"2003","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0090","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1016\/j.cell.2010.12.001","article-title":"A tissue-specific atlas of mouse protein phosphorylation and expression","volume":"143","author":"Huttlin","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0095","doi-asserted-by":"crossref","first-page":"34606","DOI":"10.1074\/jbc.M111.238527","article-title":"14-3-3 binding to ataxin-1(ATXN1) regulates its dephosphorylation at S776 and transport to the nucleus","volume":"286","author":"Lai","year":"2011","journal-title":"J Biol Chem"},{"key":"10.1016\/j.gde.2012.01.001_bib0100_1","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.neuron.2010.08.022","article-title":"SCA1-like disease in mice expressing wild type ataxin-1 with a serine to aspartic acid replacement at residue 776","volume":"67","author":"Duvick","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0105","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1073\/pnas.1018748108","article-title":"Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3{epsilon} haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration","volume":"108","author":"Jafar-Nejad","year":"2011","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.gde.2012.01.001_bib0110","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes","volume":"72","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0115","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1152\/physrev.00041.2009","article-title":"Molecular mechanisms and potential therapeutical targets in Huntington's disease","volume":"9","author":"Zuccato","year":"2010","journal-title":"Physiol Rev"},{"key":"10.1016\/j.gde.2012.01.001_bib0120","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0968-0004(03)00168-3","article-title":"The hunt for huntingtin function: interaction partners tell many different stories","volume":"28","author":"Harjes","year":"2003","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.gde.2012.01.001_bib0125","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/378398a0","article-title":"A huntingtin-associated protein enriched in brain with implications for pathology","volume":"378","author":"Li","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.gde.2012.01.001_bib0130","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1093\/hmg\/6.13.2205","article-title":"Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin","volume":"6","author":"Engelender","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2012.01.001_bib0135_1","doi-asserted-by":"crossref","first-page":"4372","DOI":"10.1172\/JCI57552","article-title":"Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease","volume":"121","author":"Keryer","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1016\/j.gde.2012.01.001_bib0140","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1093\/hmg\/11.6.715","article-title":"Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus","volume":"11","author":"Ibanez-Tallion","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gde.2012.01.001_bib0145","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.conb.2008.05.010","article-title":"Cerebellar development and disease","volume":"18","author":"Millen","year":"2008","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.gde.2012.01.001_bib0150_1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/brain\/awq280","article-title":"Smaller intracranial volume in prodromal Huntington disease: evidence for abnormal neurodevelopment","volume":"134","author":"Nopoulos","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.gde.2012.01.001_bib0155","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/j.cell.2006.09.036","article-title":"RORa-mediated Purkinje cell development determines disease severity in adult SCA1 mice","volume":"127","author":"Serra","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.gde.2012.01.001_bib0160","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng1718","article-title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","volume":"38","author":"Rovelet-Lecrux","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.gde.2012.01.001_bib0165","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1090278","article-title":"Alpha-synuclein locus triplication causes Parkinson's disease","volume":"302","author":"Singleton","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.gde.2012.01.001_bib0170_1","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.neuron.2010.09.012","article-title":"PolyQ diseases; too many Qs, too much function","volume":"67","author":"Kratter","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.gde.2012.01.001_bib0175_1","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1016\/j.str.2009.08.002","article-title":"Secondary structure of Huntingtin amino-terminal region","volume":"17","author":"Kim","year":"2009","journal-title":"Structure"}],"container-title":["Current Opinion in Genetics & Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X12000020?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0959437X12000020?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T11:39:38Z","timestamp":1760701178000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0959437X12000020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["S0959437X12000020"],"URL":"https:\/\/doi.org\/10.1016\/j.gde.2012.01.001","relation":{},"ISSN":["0959-437X"],"issn-type":[{"value":"0959-437X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Polyglutamine neurodegeneration: expanded glutamines enhance native functions","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Genetics & Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gde.2012.01.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}