{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:21:35Z","timestamp":1787008895938,"version":"build-2736575974"},"reference-count":67,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:00:00Z","timestamp":1696550400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["T32 NS007224"],"award-info":[{"award-number":["T32 NS007224"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["AG066447"],"award-info":[{"award-number":["AG066447"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["AG074609"],"award-info":[{"award-number":["AG074609"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["AG076154"],"award-info":[{"award-number":["AG076154"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["NS083706"],"award-info":[{"award-number":["NS083706"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinocerebellar ataxia type 1 is caused by an expansion of the polyglutamine tract in ATAXIN-1. Ataxin-1 is broadly expressed throughout the brain and is involved in regulating gene expression. However, it is not yet known if mutant ataxin-1 can impact the regulation of alternative splicing events. We performed RNA sequencing in mouse models of spinocerebellar ataxia type 1 and identified that mutant ataxin-1 expression abnormally leads to diverse splicing events in the mouse cerebellum of spinocerebellar ataxia type 1. We found that the diverse splicing events occurred in a predominantly cell autonomous manner. A majority of the transcripts with misregulated alternative splicing events were previously unknown, thus allowing us to identify overall new biological pathways that are distinctive to those affected by differential gene expression in spinocerebellar ataxia type 1. We also provide evidence that the splicing factor Rbfox1 mediates the effect of mutant ataxin-1 on misregulated alternative splicing and that genetic manipulation of Rbfox1 expression modifies neurodegenerative phenotypes in a Drosophila model of spinocerebellar ataxia type 1 in vivo. Together, this study provides novel molecular mechanistic insight into the pathogenesis of spinocerebellar ataxia type 1 and identifies potential therapeutic strategies for spinocerebellar ataxia type 1.<\/jats:p>","DOI":"10.1093\/hmg\/ddad170","type":"journal-article","created":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T01:24:10Z","timestamp":1696296250000},"page":"138-149","source":"Crossref","is-referenced-by-count":10,"title":["Dysregulation of alternative splicing in spinocerebellar ataxia type 1"],"prefix":"10.1093","volume":"33","author":[{"given":"Victor","family":"Olmos","sequence":"first","affiliation":[{"name":"Yale School of Medicine Department of Genetics, , 295 Congress Avenue, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evrett N","family":"Thompson","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Cell Biology, , 10 Amistad Street, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Yale Stem Cell Center, , 10 Amistad Street, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha","family":"Gogia","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Genetics, , 295 Congress Avenue, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Luttik","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Interdepartmental Neuroscience Program, , 295 Congress Avenue, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Department of Neuroscience, , 295 Congress Avenue, New Haven, CT 06510 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaishnavi","family":"Veeranki","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Genetics, , 295 Congress Avenue, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luhan","family":"Ni","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Genetics, , 295 Congress Avenue, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Sim","sequence":"additional","affiliation":[{"name":"Yale College , 433 Temple Street, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Chen","sequence":"additional","affiliation":[{"name":"Yale College , 433 Temple Street, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane S","family":"Krause","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Cell Biology, , 10 Amistad Street, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Yale Stem Cell Center, , 10 Amistad Street, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Department of Pathology, , 10 Amistad Street, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Department of Laboratory Medicine, , 10 Amistad Street, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janghoo","family":"Lim","sequence":"additional","affiliation":[{"name":"Yale School of Medicine Department of Genetics, , 295 Congress Avenue, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Yale Stem Cell Center, , 10 Amistad Street, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Interdepartmental Neuroscience Program, , 295 Congress Avenue, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Department of Neuroscience, , 295 Congress Avenue, New Haven, CT 06510 , USA"},{"name":"Yale School of Medicine Program in Cellular Neuroscience, Neurodegeneration, and Repair, , 295 Congress Avenue, New Haven, CT 06510 , United States"},{"name":"Yale School of Medicine Wu Tsai Institute, , 100 College, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,10,6]]},"reference":[{"key":"2024032909251414700_ref1","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":"2024032909251414700_ref2","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":"Burright","year":"1995","journal-title":"Cell"},{"key":"2024032909251414700_ref3","doi-asserted-by":"crossref","first-page":"7385","DOI":"10.1523\/JNEUROSCI.17-19-07385.1997","article-title":"Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations","volume":"17","author":"Clark","year":"1997","journal-title":"J Neurosci"},{"key":"2024032909251414700_ref4","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 polyglutarnine- induced disease in SCA1 transgenic mice","volume":"95","author":"Klement","year":"1998","journal-title":"Cell"},{"key":"2024032909251414700_ref5","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.neuron.2022.11.017","article-title":"Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles","volume":"111","author":"Handler","year":"2023","journal-title":"Neuron"},{"key":"2024032909251414700_ref6","doi-asserted-by":"crossref","first-page":"4047","DOI":"10.1073\/pnas.0400615101","article-title":"Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors","volume":"101","author":"Tsai","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024032909251414700_ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.7554\/eLife.39981","article-title":"Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1","volume":"7","author":"Driessen","year":"2018","journal-title":"elife"},{"key":"2024032909251414700_ref8","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.neuron.2018.02.013","article-title":"ATXN1-CIC complex is the primary driver of cerebellar pathology in spinocerebellar ataxia type 1 through a gain-of-function mechanism","volume":"97","author":"Rousseaux","year":"2018","journal-title":"Neuron"},{"key":"2024032909251414700_ref9","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":"Lam","year":"2006","journal-title":"Cell"},{"key":"2024032909251414700_ref10","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":"Tsuda","year":"2005","journal-title":"Cell"},{"key":"2024032909251414700_ref11","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.cell.2006.03.032","article-title":"A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration","volume":"125","author":"Lim","year":"2006","journal-title":"Cell"},{"key":"2024032909251414700_ref12","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":"2024032909251414700_ref13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1242\/jcs.01611","article-title":"RNA association and nucleocytoplasmic shuttling by ataxin-1","volume":"118","author":"Irwin","year":"2005","journal-title":"J Cell Sci"},{"key":"2024032909251414700_ref14","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1093\/hmg\/10.1.25","article-title":"The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract","volume":"10","author":"Yue","year":"2001","journal-title":"Hum Mol Genet"},{"key":"2024032909251414700_ref15","doi-asserted-by":"crossref","first-page":"1","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":"Chiara","year":"2009","journal-title":"PLoS One"},{"key":"2024032909251414700_ref16","first-page":"5083","article-title":"Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models","volume":"25","author":"Tan","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2024032909251414700_ref17","doi-asserted-by":"crossref","first-page":"9926","DOI":"10.1073\/pnas.1500639112","article-title":"Splicing inhibition of U2AF65 leads to alternative exon skipping","volume":"112","author":"Cho","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024032909251414700_ref18","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1007\/s00401-019-02042-8","article-title":"Splicing repression is a major function of TDP-43 in motor neurons","volume":"138","author":"Donde","year":"2019","journal-title":"Acta Neuropathol"},{"key":"2024032909251414700_ref19","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1038\/s41586-022-04424-7","article-title":"TDP-43 represses cryptic exon inclusion in the FTD\u2013ALS gene UNC13A","volume":"603","author":"Ma","year":"2022","journal-title":"Nature"},{"key":"2024032909251414700_ref20","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"PNAS"},{"key":"2024032909251414700_ref21","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-3-319-89689-2_2","article-title":"Mechanism of splicing regulation of spinal muscular atrophy genes","volume":"20","author":"Singh","year":"2018","journal-title":"Adv Neurobiol"},{"key":"2024032909251414700_ref22","doi-asserted-by":"crossref","first-page":"4377","DOI":"10.1016\/j.celrep.2019.11.093","article-title":"Dysregulation of RNA splicing in tauopathies","volume":"29","author":"Apicco","year":"2019","journal-title":"Cell Rep"},{"key":"2024032909251414700_ref23","first-page":"1","article-title":"Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies","volume":"10","author":"Li","year":"2021","journal-title":"Transl Neurodegener"},{"key":"2024032909251414700_ref24","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/gt.2017.34","article-title":"How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy","volume":"24","author":"Singh","year":"2017","journal-title":"Gene Ther"},{"key":"2024032909251414700_ref25","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1073\/pnas.1222809110","article-title":"ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43","volume":"110","author":"Arnold","year":"2013","journal-title":"Proc Natl Acad Sci"},{"key":"2024032909251414700_ref26","first-page":"1","article-title":"Identifying disease signatures in the spinocerebellar ataxia type 1 mouse cortex","volume":"11","author":"Luttik","year":"2022","journal-title":"Cell"},{"key":"2024032909251414700_ref27","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":"Watase","year":"2002","journal-title":"Neuron"},{"key":"2024032909251414700_ref28","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"2024032909251414700_ref29","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq-A python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"key":"2024032909251414700_ref30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"key":"2024032909251414700_ref31","article-title":"Eulerr: area-proportional Euler and Venn diagrams with ellipses","author":"Larsson","year":"2021"},{"key":"2024032909251414700_ref32","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1089\/omi.2011.0118","article-title":"ClusterProfiler: an R package for comparing biological themes among gene clusters","volume":"16","author":"Yu","year":"2012","journal-title":"Omi A J Integr Biol"},{"key":"2024032909251414700_ref33","doi-asserted-by":"crossref","first-page":"E5593","DOI":"10.1073\/pnas.1419161111","article-title":"rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data","volume":"111","author":"Shen","year":"2014","journal-title":"Proc Natl Acad Sci"},{"key":"2024032909251414700_ref34","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/s41586-021-03220-z","article-title":"A transcriptomic atlas of mouse cerebellar cortex comprehensively defines cell types","volume":"598","author":"Kozareva","year":"2021","journal-title":"Nature"},{"key":"2024032909251414700_ref35","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1242\/dev.118.2.401","article-title":"Targeted gene expression as a means of altering cell fates and generating dominant phenotypes","volume":"118","author":"Brand","year":"1993","journal-title":"Development"},{"key":"2024032909251414700_ref36","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat Methods"},{"key":"2024032909251414700_ref37","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":"2024032909251414700_ref38","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.ajhg.2015.09.007","article-title":"A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia","volume":"97","author":"Coutelier","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2024032909251414700_ref39","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/mds.26096","article-title":"Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?","volume":"30","author":"Fogel","year":"2015","journal-title":"Mov Disord"},{"key":"2024032909251414700_ref40","doi-asserted-by":"crossref","first-page":"16102","DOI":"10.1074\/jbc.RA118.005066","article-title":"Structure\u2013function analyses of the ion channel TRPC3 reveal that its cytoplasmic domain allosterically modulates channel gating","volume":"293","author":"Sierra-Valdez","year":"2018","journal-title":"J Biol Chem"},{"key":"2024032909251414700_ref41","doi-asserted-by":"crossref","first-page":"11414","DOI":"10.1523\/JNEUROSCI.6446-11.2012","article-title":"Alternative splicing of the TRPC3 ion channel calmodulin\/IP 3 receptor-binding domain in the hindbrain enhances cation flux","volume":"32","author":"Kim","year":"2012","journal-title":"J Neurosci"},{"key":"2024032909251414700_ref42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/database\/bax071","article-title":"SFMetaDB: a comprehensive annotation of mouse RNA splicing factor RNA-Seq datasets","volume":"2017","author":"Li","year":"2017","journal-title":"Database"},{"key":"2024032909251414700_ref43","doi-asserted-by":"crossref","first-page":"2550","DOI":"10.1101\/gad.1703108","article-title":"Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2","volume":"22","author":"Zhang","year":"2008","journal-title":"Genes Dev"},{"key":"2024032909251414700_ref44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/bib\/bbab155","article-title":"Updates to HCOP: the HGNC comparison of orthology predictions tool","volume":"22","author":"Yates","year":"2021","journal-title":"Brief Bioinform"},{"key":"2024032909251414700_ref45","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s00335-005-0103-2","article-title":"HCOP: the HGNC comparison of orthology predictions search tool","volume":"16","author":"Wright","year":"2005","journal-title":"Mamm Genome"},{"key":"2024032909251414700_ref46","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1093\/bib\/bbl030","article-title":"HCOP: a searchable database of human orthology predictions","volume":"8","author":"Eyre","year":"2007","journal-title":"Brief Bioinform"},{"key":"2024032909251414700_ref47","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1093\/nar\/gkq892","article-title":"Genenames.org: the HGNC resources in 2011","volume":"39","author":"Seal","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"2024032909251414700_ref48","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/35040584","article-title":"Identification of genes that modify ataxin-1-induced neurodegeneration","volume":"408","author":"Fernandez-Funez","year":"2000","journal-title":"Nature"},{"key":"2024032909251414700_ref49","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/jci.insight.123193","article-title":"Antisense oligonucleotide\u2013mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles","volume":"3","author":"Friedrich","year":"2018","journal-title":"JCI Insight"},{"key":"2024032909251414700_ref50","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1016\/j.neuron.2016.02.011","article-title":"Cerebellar transcriptome profiles of ATXN1 transgenic mice reveal SCA1 disease progression and protection pathways","volume":"89","author":"Ingram","year":"2016","journal-title":"Neuron"},{"key":"2024032909251414700_ref51","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fncel.2022.998408","article-title":"Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic spinocerebellar ataxia type 1 mice","volume":"16","author":"Borgenheimer","year":"2022","journal-title":"Front Cell Neurosci"},{"key":"2024032909251414700_ref52","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.neuron.2008.06.009","article-title":"TRPC3 channels are required for synaptic transmission and motor coordination","volume":"59","author":"Hartmann","year":"2008","journal-title":"Neuron"},{"key":"2024032909251414700_ref53","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1113\/JP272950","article-title":"Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice","volume":"595","author":"Shuvaev","year":"2017","journal-title":"J Physiol"},{"key":"2024032909251414700_ref54","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13041-015-0180-4","article-title":"A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia","volume":"8","author":"Morino","year":"2015","journal-title":"Mol Brain"},{"key":"2024032909251414700_ref55","doi-asserted-by":"crossref","first-page":"2288","DOI":"10.1212\/01.WNL.0000147299.80872.D1","article-title":"Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus","volume":"63","author":"Dudding","year":"2004","journal-title":"Neurology"},{"key":"2024032909251414700_ref56","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1371\/journal.pgen.0030108","article-title":"Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans","volume":"3","author":"Van De Leemput","year":"2007","journal-title":"PLoS Genet"},{"key":"2024032909251414700_ref57","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-7-67","article-title":"Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","volume":"7","author":"Huang","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"2024032909251414700_ref58","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1101\/gad.182477.111","article-title":"The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function","volume":"26","author":"Gehman","year":"2012","journal-title":"Genes Dev"},{"key":"2024032909251414700_ref59","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":"2024032909251414700_ref60","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/9.9.1303","article-title":"A novel protein with RNA-binding motifs interacts with ataxin-2","volume":"9","author":"Shibata","year":"2000","journal-title":"Hum Mol Genet"},{"key":"2024032909251414700_ref61","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0037985","article-title":"FOX-2 dependent splicing of ataxin-2 transcript is affected by ataxin-1 overexpression","volume":"7","author":"Welzel","year":"2012","journal-title":"PLoS One"},{"key":"2024032909251414700_ref62","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15252\/embj.2020106106","article-title":"Dual targeting of brain region-specific kinases potentiates neurological rescue in spinocerebellar ataxia type 1","volume":"40","author":"Lee","year":"2021","journal-title":"EMBO J"},{"key":"2024032909251414700_ref63","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00018-022-04419-7","article-title":"The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum","volume":"79","author":"Olmos","year":"2022","journal-title":"Cell Mol Life Sci"},{"key":"2024032909251414700_ref64","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-020-62308-0","article-title":"Hippocampal mitochondrial dysfunction and psychiatric-relevant behavioral deficits in spinocerebellar ataxia 1 mouse model","volume":"10","author":"Tichanek","year":"2020","journal-title":"Sci Rep"},{"key":"2024032909251414700_ref65","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.154442","article-title":"Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model","volume":"7","author":"Orengo","year":"2022","journal-title":"JCI Insight"},{"key":"2024032909251414700_ref66","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1111\/j.1750-3639.1997.tb00893.x","article-title":"The neuropathology of CAG repeat diseases: review and update of genetic and molecular features","volume":"7","author":"Robitaille","year":"1997","journal-title":"Brain Pathol"},{"key":"2024032909251414700_ref67","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ana.410390214","article-title":"Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions","volume":"39","author":"Gilman","year":"1996","journal-title":"Ann Neurol"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddad170\/52185733\/ddad170.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/2\/138\/57117976\/ddad170.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/2\/138\/57117976\/ddad170.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T05:26:34Z","timestamp":1711689994000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/33\/2\/138\/7295312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,6]]},"references-count":67,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,10,6]]},"published-print":{"date-parts":[[2024,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddad170","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,1,15]]},"published":{"date-parts":[[2023,10,6]]}}}