Ontology highlight
ABSTRACT:
SUBMITTER: Huang X
PROVIDER: S-EPMC6216204 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Huang Xiaoping X Wu Beverly P BP Nguyen Diana D Liu Yi-Ting YT Marani Melika M Hench Jürgen J Bénit Paule P Kozjak-Pavlovic Vera V Rustin Pierre P Frank Stephan S Narendra Derek P DP
Human molecular genetics 20181101 22
Mutations in paralogous mitochondrial proteins CHCHD2 and CHCHD10 cause autosomal dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS/FTD), respectively. Using newly generated CHCHD2, CHCHD10 and CHCHD2/10 double knockout cell lines, we find that the proteins are partially functionally redundant, similarly distributed throughout the mitochondrial cristae, and form heterodimers. Unexpectedly, we also find that CHCHD2/CHCHD10 heterodimerization increases ...[more]