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6. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Cízková A; Stránecký V; Mayr JA; Tesarová M; Havlícková V; Paul J; Ivánek R; Kuss AW; Hansíková H; Kaplanová V; Vrbacký M; Hartmannová H; Nosková L; Honzík T; Drahota Z; Magner M; Hejzlarová K; Sperl W; Zeman J; Houstek J; Kmoch S Nat Genet; 2008 Nov; 40(11):1288-90. PubMed ID: 18953340 [TBL] [Abstract][Full Text] [Related]
7. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. Diodato D; Invernizzi F; Lamantea E; Fagiolari G; Parini R; Menni F; Parenti G; Bollani L; Pasquini E; Donati MA; Cassandrini D; Santorelli FM; Haack TB; Prokisch H; Ghezzi D; Lamperti C; Zeviani M JIMD Rep; 2015; 15():71-8. PubMed ID: 24740313 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
11. 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]
12. 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]
13. ATPAF1 deficiency impairs ATP synthase assembly and mitochondrial respiration. Zhou Z; Zhang K; Liu Z; Gao X; Huang K; Chen C; Wang D; Yang Q; Long Q Mitochondrion; 2021 Sep; 60():129-141. PubMed ID: 34375736 [TBL] [Abstract][Full Text] [Related]
14. Expression and processing of the TMEM70 protein. Hejzlarová K; Tesařová M; Vrbacká-Čížková A; Vrbacký M; Hartmannová H; Kaplanová V; Nosková L; Kratochvílová H; Buzková J; Havlíčková V; Zeman J; Kmoch S; Houštěk J Biochim Biophys Acta; 2011 Jan; 1807(1):144-9. PubMed ID: 20937241 [TBL] [Abstract][Full Text] [Related]
15. 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. Disruption of sarcolemmal ATP-sensitive potassium channel activity impairs the cardiac response to systolic overload. Hu X; Xu X; Huang Y; Fassett J; Flagg TP; Zhang Y; Nichols CG; Bache RJ; Chen Y Circ Res; 2008 Oct; 103(9):1009-17. PubMed ID: 18802029 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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] [Next] [New Search]