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: Springer Nature 2018-09-01
Series:EMBO Molecular Medicine
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Online Access:https://doi.org/10.15252/emmm.201708698
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