Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease
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DOI: 10.1002/jimd.12485
Abstract: Inactivating mutations in the PPT1 gene encoding palmitoyl‐protein thioesterase‐1 (PPT1) underlie the CLN1 disease, a devastating neurodegenerative lysosomal storage disorder. The mechanism of pathogenesis underlying CLN1 disease has remained elusive. PPT1 is a lysosomal enzyme,… read more here.
Keywords: lysosomal homeostasis; disease; cln1 disease; ppt1 deficiency ... See more keywords