Ontology highlight
ABSTRACT:
SUBMITTER: Chen X
PROVIDER: S-EPMC2663415 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
The Journal of neuroscience : the official journal of the Society for Neuroscience 20081101 48
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (ATX3; MJD1) protein. In biochemical experiments, we demonstrate that mutant ATX3(exp) specifically associated with the type 1 inositol 1,4,5-trisphosphate receptor (InsP(3)R1), an intracellular calcium (Ca(2+)) release channel. In electrophysiological and Ca(2+) imaging experiments, we show that InsP(3)R1 was sensit ...[more]