NIH R01 · 2024
Neuronal roles of Parkinsons Disease Vps13C in regulating autophagy and calcium dynamics
With a rapidly aging population, neurodegenerative diseases such as Parkinson’s Disease (PD), are expected to rise to 25% by 2030, presenting a huge economical and emotional challenge to society. While most PD cases are sporadic, approximately 10-15% are familial. One of the few genes leading to early-onset PD is the recently discovered VPS13C (Vacuolar Protein Sorting 13 Homolog C). Autosomal-recessive mutations in Vps13C result in protein-truncation and loss of function, with patients demonstrating Lewy body pathology with α-synuclein aggregation in both dopaminergic and cortical neurons. While Vps13C was recently implicated in the endolysosomal pathway in non-neuronal cells, its neuronal…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.