The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits.

ABSTRACT: Polyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are suggested to play diverse cellular roles, the pathogenic mutant proteins bearing an expanded polyglutamine sequence share a tendency to self-assemble, aggregate and engage in abnormal molecular interactions. Understanding the shared paths that link polyglutamine protein expansion to the nervous system dysfunction and the degeneration that takes place in these disorders is instrumental to the identification of targets for therapeutic intervention. Among polyglutamine diseases, spinocerebellar ataxias (SCAs) share many common aspects, including the fact that they invol

SUBMITTER: Koppenol R 

PROVIDER: S-EPMC10232246 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature