These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. Havlíčková Karbanová V; Cížková Vrbacká A; Hejzlarová K; Nůsková H; Stránecký V; Potocká A; Kmoch S; Houštěk J Biochim Biophys Acta; 2012 Jul; 1817(7):1037-43. PubMed ID: 22433607 [TBL] [Abstract][Full Text] [Related]
7. TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. Carroll J; He J; Ding S; Fearnley IM; Walker JE Proc Natl Acad Sci U S A; 2021 Mar; 118(13):. PubMed ID: 33753518 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Honzík T; Tesarová M; Mayr JA; Hansíková H; Jesina P; Bodamer O; Koch J; Magner M; Freisinger P; Huemer M; Kostková O; van Coster R; Kmoch S; Houstêk J; Sperl W; Zeman J Arch Dis Child; 2010 Apr; 95(4):296-301. PubMed ID: 20335238 [TBL] [Abstract][Full Text] [Related]
13. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Shchelochkov OA; Li FY; Wang J; Zhan H; Towbin JA; Jefferies JL; Wong LJ; Scaglia F Mol Genet Metab; 2010; 101(2-3):282-5. PubMed ID: 20728387 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710 [TBL] [Abstract][Full Text] [Related]
17. TMEM70 functions in the assembly of complexes I and V. Sánchez-Caballero L; Elurbe DM; Baertling F; Guerrero-Castillo S; van den Brand M; van Strien J; van Dam TJP; Rodenburg R; Brandt U; Huynen MA; Nijtmans LGJ Biochim Biophys Acta Bioenerg; 2020 Aug; 1861(8):148202. PubMed ID: 32275929 [TBL] [Abstract][Full Text] [Related]
18. A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. Atay Z; Bereket A; Turan S; Haliloglu B; Memisoglu A; Khayat M; Shalev SA; Spiegel R Gene; 2013 Feb; 515(1):197-9. PubMed ID: 23235116 [TBL] [Abstract][Full Text] [Related]
19. Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. Jonckheere AI; Huigsloot M; Lammens M; Jansen J; van den Heuvel LP; Spiekerkoetter U; von Kleist-Retzow JC; Forkink M; Koopman WJ; Szklarczyk R; Huynen MA; Fransen JA; Smeitink JA; Rodenburg RJ Mitochondrion; 2011 Nov; 11(6):954-63. PubMed ID: 21945727 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]