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• W2480597918 abstract "Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans." @default.
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• W2480597918 date "2016-08-06" @default.
• W2480597918 modified "2023-10-03" @default.
• W2480597918 title "Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation" @default.
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• W2480597918 doi "https://doi.org/10.7554/elife.16078" @default.
• W2480597918 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4991934" @default.
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