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Article

Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.

EMBO molecular medicine - 1 Oct 2018

Reyes Aurelio, Melchionda Laura, Burlina Alberto, Robinson Alan J, Ghezzi Daniele, Zeviani Massimo

Abstract excerpt

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 pathogenic mutations in TIMM50 in an infant patient with rapidly progressive, severe encephalopathy. Patient fibroblasts presented...

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Identifiers

PMID: 30190335
DOI: 10.15252/emmm.201708698
PMCID: PMC6180300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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