Publications by authors named "Jan A van der Beek"
Article Synopsis
- VPS41 is part of the HOPS complex important for lysosomal fusion and regulated secretion, and mutations in VPS41 were found in three patients with neurodegeneration characterized by ataxia and dystonia.
- Mutations resulted in dysfunctional HOPS complex formation, leading to delayed lysosomal delivery of cellular materials and altered cellular signaling pathways, particularly affecting mTORC1 and autophagy responses.
- In a C. elegans model of Parkinson's disease, VPS41 mutations undermined its neuroprotective role against toxic protein aggregates, suggesting the variants contribute to a neurodegenerative disease by disrupting critical cellular functions.
