Cathepsin B p.Gly284Val Variant in Parkinson’s Disease Pathogenesis - Milanowski, Lukasz M.; Hou, Xu; Bredenberg, Jenny M.; Fiesel, Fabienne C.; Cocker, Liam T.; Soto-Beasley, Alexandra I.; Walton, Ronald L.; Strongosky, Audrey J.; Faroqi, Ayman H.; Barcikowska, Maria; Boczarska-Jedynak, Magdalena; Dulski, Jaroslaw; et al. (International journal of molecular sciences, 2022)
Keywords: Cathepsin B - genetics; Cathepsin B - metabolism; Fibroblasts; Gene expression; Genetics; Genotype; Health risk assessment; Heterozygote; Humans; Localization; Mutation; Parkinson Disease - genetics; Parkinson's disease; Pathogenesis; Patients; Penetrance; Proteins; Poland; fibroblasts; monogenic forms; Parkinson’s disease; CTSB; familial forms