Ontology highlight
ABSTRACT:
SUBMITTER: Durcan TM
PROVIDER: S-EPMC3005906 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Durcan Thomas M TM Kontogiannea Maria M Thorarinsdottir Thorhildur T Fallon Lara L Williams Aislinn J AJ Djarmati Ana A Fantaneanu Tadeu T Paulson Henry L HL Fon Edward A EA
Human molecular genetics 20101011 1
Machado-Joseph disease (MJD), the most common dominantly inherited ataxia worldwide, is caused by a polyglutamine (polyQ) expansion in the deubiquitinating (DUB) enzyme ataxin-3. Interestingly, MJD can present clinically with features of Parkinsonism. In this study, we identify parkin, an E3 ubiquitin-ligase responsible for a common familial form of Parkinson's disease, as a novel ataxin-3 binding partner. The interaction between ataxin-3 and parkin is direct, involves multiple domains and is gr ...[more]