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PubMed (OMIM) for id: 92609
6 results
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Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
Clin Genet. 2020 Jul;98(1):102-103. doi: 10.1111/cge.13763. Epub 2020 May 5.
Clin Genet. 2020.
PMID: 32369862
No abstract available.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A.
Tort F, et al.
Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17.
Hum Mutat. 2019.
PMID: 31058414
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Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.
Reyes A, Melchionda L, Burlina A, Robinson AJ, Ghezzi D, Zeviani M.
Reyes A, et al.
EMBO Mol Med. 2018 Oct;10(10):e8698. doi: 10.15252/emmm.201708698.
EMBO Mol Med. 2018.
PMID: 30190335
Free PMC article.
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Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC.
Shahrour MA, et al.
Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.
Clin Genet. 2017.
PMID: 27573165
Free PMC article.
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Tim50 maintains the permeability barrier of the mitochondrial inner membrane.
Meinecke M, Wagner R, Kovermann P, Guiard B, Mick DU, Hutu DP, Voos W, Truscott KN, Chacinska A, Pfanner N, Rehling P.
Meinecke M, et al.
Science. 2006 Jun 9;312(5779):1523-6. doi: 10.1126/science.1127628.
Science. 2006.
PMID: 16763150
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Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes.
Yamamoto H, Esaki M, Kanamori T, Tamura Y, Nishikawa Si, Endo T.
Yamamoto H, et al.
Cell. 2002 Nov 15;111(4):519-28. doi: 10.1016/s0092-8674(02)01053-x.
Cell. 2002.
PMID: 12437925
Free article.
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