Article
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.
Molecular and cellular biology - 1 Jan 2024
Crameri Jordan J, Palmer Catherine S, Stait Tegan, Jackson Thomas D, Lynch Matthew, Sinclair Adriane, Frajman Leah E, Compton Alison G, Coman David, Thorburn David R, Frazier Ann E, Stojanovski Diana
Abstract excerpt
TIMM50 is a core subunit of the TIM23 complex, the mitochondrial inner membrane translocase responsible for the import of pre-sequence-containing precursors into the mitochondrial matrix and inner membrane. Here we describe a mitochondrial disease patient who is homozygous for a novel variant in TIMM50 and establish the first proteomic map of mitochondrial disease associated with TIMM50 dysfunction. We...
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