{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chopra R"],"funding":["National Ataxia Foundation","NINDS NIH HHS","National Institutes of Health","NIGMS NIH HHS"],"pagination":["3249-3265"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7689299"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["29(19)"],"pubmed_abstract":["Selective neuronal vulnerability in neurodegenerative disease is poorly understood. Using the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis that regional differences in Purkinje neuron degeneration could provide novel insights into selective vulnerability. ATXN1[82Q] Purkinje neurons from the anterior cerebellum were found to degenerate earlier than those from the nodular zone, and this early degeneration was associated with selective dysregulation of ion channel transcripts and altered Purkinje neuron spiking. Efforts to understand the basis for selective dysregulation of channel transcripts revealed modestly increased expression of the ATXN1 co-repressor Capicua (Cic) in anterior cerebellar Purkinje neurons. Importantly, disrupting the association b"],"journal":["Human molecular genetics"],"pubmed_title":["Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1."],"pmcid":["PMC7689299"],"funding_grant_id":["R01NS097903","U01NS103883","T32GM007863","R01 NS085054","T32 GM007863","R37 NS033123","U01 NS103883","R01 NS097903","R37NS033123","T32 NS105604","R01 NS022920"],"pubmed_authors":["Bushart DD","Chopra R","Huang H","Man LJ","Handler HP","Cooper JP","Morrison LM","Yellajoshyula D","Shakkottai VG","Scoles DR","Orr HT","Dansithong W","Pulst SM"],"additional_accession":[]},"is_claimable":false,"name":"Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.","description":"Selective neuronal vulnerability in neurodegenerative disease is poorly understood. Using the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis that regional differences in Purkinje neuron degeneration could provide novel insights into selective vulnerability. ATXN1[82Q] Purkinje neurons from the anterior cerebellum were found to degenerate earlier than those from the nodular zone, and this early degeneration was associated with selective dysregulation of ion channel transcripts and altered Purkinje neuron spiking. Efforts to understand the basis for selective dysregulation of channel transcripts revealed modestly increased expression of the ATXN1 co-repressor Capicua (Cic) in anterior cerebellar Purkinje neurons. Importantly, disrupting the association b","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2026-05-04T19:50:10.599Z","creation":"2021-02-20T03:05:24Z"},"accession":"S-EPMC7689299","cross_references":{"pubmed":["32964235"],"doi":["10.1093/hmg/ddaa212"]}}