Ontology highlight
ABSTRACT:
SUBMITTER: Zhou X
PROVIDER: S-EPMC6619604 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
PloS one 20190710 7
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL). Although the exact function of PGRN is unknown, it has been increasingly implicated in lysosomal physiology. Here we report that PGRN interacts with the lysosomal enzyme, glucocerebrosidase (GCase), and is essential for proper GCase activity. ...[more]