Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

1997/01/01 by Olga Zhuchenko, Jennifer Bailey, Jennifer M. Bailey +10 · 6 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Ataxia #Biology #Calcium #Calcium channel #Cerebellar ataxia #DNA Repair Mechanisms #Gene #Genetic Neurodegenerative Diseases #Genetics #Internal medicine #Medicine #Mitochondrial Function and Pathology #Neuroscience #Spinocerebellar ataxia #Trinucleotide repeat expansion

paper · doi:10.1038/ng0197-62

crossref issued 1997/01/01 · crossref published 1997/01/01 · crossref published-print 1997/01/01 · openalex publication_date 1997/01/01 · crossref created 2004/08/18 · openalex created_date 2016/06/24 · crossref deposited 2023/05/18 · crossref indexed 2026/08/07 · openalex updated_date 2026/08/08

Citations

• Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
• Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25.
• A gene for familial hemiplegic migraine maps to chromosome 19
• Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain
• Chromosomal Localization of the Human Genes for α1A, α1B, and α1E Voltage-Dependent Ca2+ Channel Subunits
• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Cited by

• A β4 Isoform-specific Interaction Site in the Carboxyl-terminal Region of the Voltage-dependent Ca2+ Channel α1A Subunit
• Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
• 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
• SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene
• Advances in genetics of migraine
• Cav2.1 [wikipedia]