The Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.

ABSTRACT: While Parkinson's disease has a multifactorial etiology, 5%-10% of cases present with identifiable disease-causing gene mutations. Further investigation into these mutations is a way to identify underlying pathologic mechanism. One of the rare Parkinson-associated genes is DNAJC13, coding for an endosome-associated protein. Several lines of evidence suggest that disturbed endosomal pathways are instrumental in the development of Parkinson pathology. Recently, we have shown that DNAJC13/RME-8 is a positive modulator of autophagy, a lysosome-associated degradative process. Here, we further characterize the role of the disease-linked DNAJC13(N855S) mutant and perform biochemical, cell biological, co-localization, and expression analysis by employing a newly established cell line with reduced

SUBMITTER: Stein A 

PROVIDER: S-EPMC12301596 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature