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

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 mutati...

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Detalles Bibliográficos
Publicado en:EMBO Mol Med
Autores principales: Reyes, Aurelio, Melchionda, Laura, Burlina, Alberto, Robinson, Alan J, Ghezzi, Daniele, Zeviani, Massimo
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180300/
https://ncbi.nlm.nih.gov/pubmed/30190335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708698
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