Functional requirement for human pitrilysin metallopeptidase 1 arginine 183, mutated in amyloidogenic neuropathy
Sign Up to like & getrecommendations! Published in 2018 at "Protein Science"
DOI: 10.1002/pro.3380
Abstract: Here we report the enzymologic characterization of recombinant human pitrilysin metallopeptidase 1 (Pitrm1) and derivative mutants including the arginine‐to‐glutamine substitution mutant Pitrm1 R183Q, which has been implicated in inherited amyloidogenic neuropathy. Recombinant Pitrm1 R183Q was… read more here.
Keywords: pitrm1 r183q; human pitrilysin; amyloidogenic neuropathy; requirement ... See more keywords
Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Psychiatry"
DOI: 10.1038/s41380-020-0807-4
Abstract: Mutations in pitrilysin metallopeptidase 1 (PITRM1), a mitochondrial protease involved in mitochondrial precursor processing and degradation, result in a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive behavior, as well as cognitive decline.… read more here.
Keywords: pitrm1 knockout; alzheimer disease; pathology; cerebral organoids ... See more keywords