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5. Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. Catteruccia M; Verrigni D; Martinelli D; Torraco A; Agovino T; Bonafé L; D'Amico A; Donati MA; Adorisio R; Santorelli FM; Carrozzo R; Bertini E; Dionisi-Vici C Mol Genet Metab; 2014 Mar; 111(3):353-359. PubMed ID: 24485043 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Mackay L; Gijavanekar C; Streff H; Price JF; Elsea SH; Scaglia F Am J Med Genet A; 2023 May; 191(5):1366-1372. PubMed ID: 36751706 [TBL] [Abstract][Full Text] [Related]
8. 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]
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. Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Vrbacký M; Kovalčíková J; Chawengsaksophak K; Beck IM; Mráček T; Nůsková H; Sedmera D; Papoušek F; Kolář F; Sobol M; Hozák P; Sedlacek R; Houštěk J Hum Mol Genet; 2016 Nov; 25(21):4674-4685. PubMed ID: 28173120 [TBL] [Abstract][Full Text] [Related]
11. 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]
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. 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. 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]
15. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. Mordaunt DA; Jolley A; Balasubramaniam S; Thorburn DR; Mountford HS; Compton AG; Nicholl J; Manton N; Clark D; Bratkovic D; Friend K; Yu S Am J Med Genet A; 2015 Jun; 167(6):1330-6. PubMed ID: 25899669 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Baumgartner MR; Hu CA; Almashanu S; Steel G; Obie C; Aral B; Rabier D; Kamoun P; Saudubray JM; Valle D Hum Mol Genet; 2000 Nov; 9(19):2853-8. PubMed ID: 11092761 [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. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Miyake N; Yano S; Sakai C; Hatakeyama H; Matsushima Y; Shiina M; Watanabe Y; Bartley J; Abdenur JE; Wang RY; Chang R; Tsurusaki Y; Doi H; Nakashima M; Saitsu H; Ogata K; Goto Y; Matsumoto N Hum Mutat; 2013 Mar; 34(3):446-52. PubMed ID: 23281071 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]