Ontology highlight
ABSTRACT:
SUBMITTER: Butler VJ
PROVIDER: S-EPMC6613950 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Butler Victoria J VJ Cortopassi Wilian A WA Argouarch Andrea R AR Ivry Sam L SL Craik Charles S CS Jacobson Matthew P MP Kao Aimee W AW
Journal of molecular biology 20190125 5
Single-copy loss-of-function mutations in the progranulin gene (PGRN) underlie the neurodegenerative disease frontotemporal lobar degeneration, while homozygous loss-of-function of PGRN results in the lysosomal storage disorder neuronal ceroid lipofuscinosis. Despite evidence that normal PGRN levels are critical for neuronal health, the function of this protein is not yet understood. Here, we show that PGRN stimulates the in vitro maturation of the lysosomal aspartyl protease cathepsin D (CTSD). ...[more]