Ontology highlight
ABSTRACT:
SUBMITTER: Ji YJ
PROVIDER: S-EPMC7188304 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Ji Yon Ju YJ Ugolino Janet J Zhang Tao T Lu Jiayin J Kim Dohoon D Wang Jiou J
PLoS genetics 20200413 4
Nutrient utilization and energy metabolism are critical for the maintenance of cellular homeostasis. A mutation in the C9orf72 gene has been linked to the most common forms of neurodegenerative diseases that include amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we have identified an evolutionarily conserved function of C9orf72 in the regulation of the transcription factor EB (TFEB), a master regulator of autophagic and lysosomal genes that is negatively modulated by ...[more]