Ontology highlight
ABSTRACT:
SUBMITTER: Bartolome F
PROVIDER: S-EPMC3843114 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Neuron 20130314 1
Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. VCP mutations are the cause of inclusion body myopathy, Paget's disease of the bone, and frontotemporal dementia (IBMPFD) and they account for 1%-2% of familial amyotrophic lateral sclerosis (ALS). Using fibroblasts from patients carrying three independent pathogenic mutations in the VCP gene, we show that VCP deficiency causes profound mitochondrial uncoupling leading to decreased mitochondrial memb ...[more]