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2. Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects. Kovářová N; Pecina P; Nůsková H; Vrbacký M; Zeviani M; Mráček T; Viscomi C; Houštěk J Biochim Biophys Acta; 2016 Apr; 1862(4):705-715. PubMed ID: 26804654 [TBL] [Abstract][Full Text] [Related]
3. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Pecina P; Capková M; Chowdhury SK; Drahota Z; Dubot A; Vojtísková A; Hansíková H; Houst'ková H; Zeman J; Godinot C; Houstek J Biochim Biophys Acta; 2003 Sep; 1639(1):53-63. PubMed ID: 12943968 [TBL] [Abstract][Full Text] [Related]
4. Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. Da-Rè C; von Stockum S; Biscontin A; Millino C; Cisotto P; Zordan MA; Zeviani M; Bernardi P; De Pittà C; Costa R J Biol Chem; 2014 Oct; 289(42):29235-46. PubMed ID: 25164807 [TBL] [Abstract][Full Text] [Related]
5. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome. Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804 [TBL] [Abstract][Full Text] [Related]
6. Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Stiburek L; Vesela K; Hansikova H; Pecina P; Tesarova M; Cerna L; Houstek J; Zeman J Biochem J; 2005 Dec; 392(Pt 3):625-32. PubMed ID: 16083427 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome]. Capková M; Hansíková H; Godinot C; Houst'ková H; Houstĕk J; Zeman J Cas Lek Cesk; 2002 Oct; 141(20):636-41. PubMed ID: 12515039 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Péquignot MO; Dey R; Zeviani M; Tiranti V; Godinot C; Poyau A; Sue C; Di Mauro S; Abitbol M; Marsac C Hum Mutat; 2001 May; 17(5):374-81. PubMed ID: 11317352 [TBL] [Abstract][Full Text] [Related]
10. SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. Quadalti C; Brunetti D; Lagutina I; Duchi R; Perota A; Lazzari G; Cerutti R; Di Meo I; Johnson M; Bottani E; Crociara P; Corona C; Grifoni S; Tiranti V; Fernandez-Vizarra E; Robinson AJ; Viscomi C; Casalone C; Zeviani M; Galli C Biochim Biophys Acta Mol Basis Dis; 2018 Jun; 1864(6 Pt A):2131-2142. PubMed ID: 29601977 [TBL] [Abstract][Full Text] [Related]
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12. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Poyau A; Buchet K; Bouzidi MF; Zabot MT; Echenne B; Yao J; Shoubridge EA; Godinot C Hum Genet; 2000 Feb; 106(2):194-205. PubMed ID: 10746561 [TBL] [Abstract][Full Text] [Related]
13. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations. Pecina P; Gnaiger E; Zeman J; Pronicka E; Houstek J Am J Physiol Cell Physiol; 2004 Nov; 287(5):C1384-8. PubMed ID: 15269007 [TBL] [Abstract][Full Text] [Related]
14. Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast. Reinhold R; Bareth B; Balleininger M; Wissel M; Rehling P; Mick DU Hum Mol Genet; 2011 Jun; 20(12):2379-93. PubMed ID: 21470975 [TBL] [Abstract][Full Text] [Related]
15. SURF1-associated Leigh syndrome: a case series and novel mutations. Lee IC; El-Hattab AW; Wang J; Li FY; Weng SW; Craigen WJ; Wong LJ Hum Mutat; 2012 Aug; 33(8):1192-200. PubMed ID: 22488715 [TBL] [Abstract][Full Text] [Related]
16. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Yao J; Shoubridge EA Hum Mol Genet; 1999 Dec; 8(13):2541-9. PubMed ID: 10556303 [TBL] [Abstract][Full Text] [Related]
17. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Zhu Z; Yao J; Johns T; Fu K; De Bie I; Macmillan C; Cuthbert AP; Newbold RF; Wang J; Chevrette M; Brown GK; Brown RM; Shoubridge EA Nat Genet; 1998 Dec; 20(4):337-43. PubMed ID: 9843204 [TBL] [Abstract][Full Text] [Related]