Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

Abstract TIMM50 is an essential component of the TIM23 complex, the mitochondrial inner membrane machinery that imports cytosolic proteins containing a mitochondrial targeting presequence into the mitochondrial inner compartment. Whole exome sequencing (WES) identified compound heterozygous pathogen...

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Bibliographic Details
Main Authors: Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani
Format: Article
Language:English
Published: Wiley 2018-10-01
Series:EMBO Molecular Medicine
Subjects:
bioenergetic dysfunction
mitochondrial import
OxPhos
TIMM50
Online Access:https://doi.org/10.15252/emmm.201708698

Internet

https://doi.org/10.15252/emmm.201708698

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