Cell-type-specific alternative splicing in spinocerebellar ataxia type 6
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference17 articles.
1. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1;Ishikawa;Am. J. Hum. Genet.,1997
2. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6;Ishikawa;Hum. Mol. Genet.,1999
3. Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6);Ishikawa;J. Neurol. Neurosurg. Psychiatry,1999
4. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis;Kennedy;Hum. Mol. Genet.,2003
5. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity;Kordasiewicz;Hum. Mol. Genet.,2006
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1. Phenotypic analysis of ataxia in spinocerebellar ataxia type 6 mice using DeepLabCut;Scientific Reports;2024-04-13
2. A survey of protein interactions and posttranslational modifications that influence the polyglutamine diseases;Frontiers in Molecular Neuroscience;2022-09-14
3. Cerebellar contribution to threat probability in a SCA6 mouse model;Human Molecular Genetics;2022-06-16
4. Commentary to: “The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6” by Rentiya et al., Cerebellum 2020;19(3):459–464);The Cerebellum;2020-11-20
5. C-terminal splice variants of P/Q-type Ca2+ channel CaV2.1 α1 subunits are differentially regulated by Rab3-interacting molecule proteins;Journal of Biological Chemistry;2017-06
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