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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| 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
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| Series: | EMBO Molecular Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.15252/emmm.201708698 |
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