A5092869677- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Sphingolipid Metabolism and Signaling
- Calcium signaling and nucleotide metabolism
Stanford University
2023-2024
Lysosomes critically rely on bis(monoacylglycero)phosphate (BMP) to stimulate lipid catabolism, cholesterol homeostasis, and lysosomal function. Alterations in BMP levels monogenic complex neurodegeneration suggest an essential function human health. However, the site mechanism responsible for synthesis have been subject debate decades. Here, we report that Batten disease gene product CLN5 is elusive synthase (BMPS). BMPS-deficient cells exhibited a massive accumulation of precursor...
Batten disease, the most prevalent form of neurodegeneration in children, is caused by mutations CLN3 gene, which encodes a lysosomal transmembrane protein. loss leads to significant accumulation glycerophosphodiesters (GPDs), end products glycerophospholipid catabolism lysosome. Despite GPD storage being robustly observed upon loss, role GPDs neuropathology remains unclear. Here, we demonstrate that act as potent inhibitors lysosome using human cell lines and mouse models. Mechanistically,...