NIH R01 · 2024
Mouse model studies of TMEM230-linked Parkinson's disease
Through our previous work funded by the American Parkinson Disease Association and NINDS, we have discovered a new Parkinson’s disease (PD) genetic locus on the short arm of chromosome 20, and identified a new PD gene, TMEM230. TMEM230 encodes a transmembrane protein of secretory and recycling vesicles, including synaptic vesicles in neurons. TMEM230 is the first transmembrane protein of synaptic vesicles identified in PD to date. Our findings, therefore, directly point to the dysfunction of synaptic vesicles in the pathogenesis of PD. The precise physiological functions of TMEM230, and pathogenic mechanism of the TMEM230-mediated PD remain unclear. Based on the molecular features of…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.