167 related articles for article (PubMed ID: 12943968)
1. 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]
2. Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Kovářová N; Cížková Vrbacká A; Pecina P; Stránecký V; Pronicka E; Kmoch S; Houštěk J
Biochim Biophys Acta; 2012 Jul; 1822(7):1114-24. PubMed ID: 22465034
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. [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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.
Mani S; Chandak GR; Singh KK; Singh R; Rao SN
Mitochondrion; 2020 Jul; 53():91-98. PubMed ID: 32380162
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
Williams SL; Taanman JW; Hansíková H; Houst'ková H; Chowdhury S; Zeman J; Houstek J
Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016
[TBL] [Abstract][Full Text] [Related]
14. SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y; Wen S; Li D; Xie J; Wei X; Li X; Liu Y; Fang H; Yang Y; Lyu J
Gene; 2018 Oct; 674():15-24. PubMed ID: 29933018
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
Poyau A; Buchet K; Godinot C
FEBS Lett; 1999 Dec; 462(3):416-20. PubMed ID: 10622737
[TBL] [Abstract][Full Text] [Related]
18. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
Moslemi AR; Tulinius M; Darin N; Aman P; Holme E; Oldfors A
Neurology; 2003 Oct; 61(7):991-3. PubMed ID: 14557577
[TBL] [Abstract][Full Text] [Related]
19. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
Santoro L; Carrozzo R; Malandrini A; Piemonte F; Patrono C; Villanova M; Tessa A; Palmeri S; Bertini E; Santorelli FM
Neuromuscul Disord; 2000 Aug; 10(6):450-3. PubMed ID: 10899453
[TBL] [Abstract][Full Text] [Related]
20. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
Pequignot MO; Desguerre I; Dey R; Tartari M; Zeviani M; Agostino A; Benelli C; Fouque F; Prip-Buus C; Marchant D; Abitbol M; Marsac C
J Biol Chem; 2001 May; 276(18):15326-9. PubMed ID: 11279059
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
