Ontology highlight
ABSTRACT:
SUBMITTER: Genin EC
PROVIDER: S-EPMC4718158 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
EMBO molecular medicine 20160101 1
CHCHD10-related diseases include mitochondrial DNA instability disorder, frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) clinical spectrum, late-onset spinal motor neuropathy (SMAJ), and Charcot-Marie-Tooth disease type 2 (CMT2). Here, we show that CHCHD10 resides with mitofilin, CHCHD3 and CHCHD6 within the "mitochondrial contact site and cristae organizing system" (MICOS) complex. CHCHD10 mutations lead to MICOS complex disassembly and loss of mitochondrial cristae with a decre ...[more]