Ontology highlight
ABSTRACT:
SUBMITTER: Atorino L
PROVIDER: S-EPMC2173682 | biostudies-literature | 2003 Nov
REPOSITORIES: biostudies-literature
Atorino Luigia L Silvestri Laura L Koppen Mirko M Cassina Laura L Ballabio Andrea A Marconi Roberto R Langer Thomas T Casari Giorgio G
The Journal of cell biology 20031117 4
Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to b ...[more]