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9. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. Spiegel R; Khayat M; Shalev SA; Horovitz Y; Mandel H; Hershkovitz E; Barghuti F; Shaag A; Saada A; Korman SH; Elpeleg O; Yatsiv I J Med Genet; 2011 Mar; 48(3):177-82. PubMed ID: 21147908 [TBL] [Abstract][Full Text] [Related]
10. TMEM70 protein - a novel ancillary factor of mammalian ATP synthase. Houstek J; Kmoch S; Zeman J Biochim Biophys Acta; 2009 May; 1787(5):529-32. PubMed ID: 19103153 [TBL] [Abstract][Full Text] [Related]
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12. TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. Staretz-Chacham O; Wormser O; Manor E; Birk OS; Ferreira CR Am J Med Genet A; 2019 Jul; 179(7):1293-1298. PubMed ID: 30950220 [TBL] [Abstract][Full Text] [Related]
13. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. Braczynski AK; Vlaho S; Müller K; Wittig I; Blank AE; Tews DS; Drott U; Kleinle S; Abicht A; Horvath R; Plate KH; Stenzel W; Goebel HH; Schulze A; Harter PN; Kieslich M; Mittelbronn M Biomed Res Int; 2015; 2015():462592. PubMed ID: 26550569 [TBL] [Abstract][Full Text] [Related]
14. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. Torraco A; Verrigni D; Rizza T; Meschini MC; Vazquez-Memije ME; Martinelli D; Bianchi M; Piemonte F; Dionisi-Vici C; Santorelli FM; Bertini E; Carrozzo R Neurogenetics; 2012 Nov; 13(4):375-86. PubMed ID: 22986587 [TBL] [Abstract][Full Text] [Related]
16. TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme. Kovalčíkova J; Vrbacký M; Pecina P; Tauchmannová K; Nůsková H; Kaplanová V; Brázdová A; Alán L; Eliáš J; Čunátová K; Kořínek V; Sedlacek R; Mráček T; Houštěk J FASEB J; 2019 Dec; 33(12):14103-14117. PubMed ID: 31652072 [TBL] [Abstract][Full Text] [Related]
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18. TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel. Bahri H; Buratto J; Rojo M; Dompierre JP; Salin B; Blancard C; Cuvellier S; Rose M; Ben Ammar Elgaaied A; Tetaud E; di Rago JP; Devin A; Duvezin-Caubet S Biochim Biophys Acta Mol Cell Res; 2021 Apr; 1868(4):118942. PubMed ID: 33359711 [TBL] [Abstract][Full Text] [Related]
19. Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase. Tauchmannová K; Pecinová A; Houštěk J; Mráček T Physiol Res; 2024 Aug; 73(Suppl 1):S243-S278. PubMed ID: 39016153 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]