166 related articles for article (PubMed ID: 12943968)
41. Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.
Bestwick M; Jeong MY; Khalimonchuk O; Kim H; Winge DR
Mol Cell Biol; 2010 Sep; 30(18):4480-91. PubMed ID: 20624914
[TBL] [Abstract][Full Text] [Related]
42. Two variants of the assembly factor Surf1 target specific terminal oxidases in Paracoccus denitrificans.
Bundschuh FA; Hoffmeier K; Ludwig B
Biochim Biophys Acta; 2008 Oct; 1777(10):1336-43. PubMed ID: 18582433
[TBL] [Abstract][Full Text] [Related]
43. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Tiranti V; Hoertnagel K; Carrozzo R; Galimberti C; Munaro M; Granatiero M; Zelante L; Gasparini P; Marzella R; Rocchi M; Bayona-Bafaluy MP; Enriquez JA; Uziel G; Bertini E; Dionisi-Vici C; Franco B; Meitinger T; Zeviani M
Am J Hum Genet; 1998 Dec; 63(6):1609-21. PubMed ID: 9837813
[TBL] [Abstract][Full Text] [Related]
44. Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
[TBL] [Abstract][Full Text] [Related]
45. Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1.
Williams SL; Valnot I; Rustin P; Taanman JW
J Biol Chem; 2004 Feb; 279(9):7462-9. PubMed ID: 14607829
[TBL] [Abstract][Full Text] [Related]
46. SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y; Brown RM; McFarland R; Yaplito-Lee J; Morris AA; Champion M; Jardine PE; Clarke A; Thorburn DR; Taylor RW; Land JM; Forrest K; Dobbie A; Simmons L; Aasheim ET; Ketteridge D; Hanrahan D; Chakrapani A; Brown GK; Rahman S
Orphanet J Rare Dis; 2013 Jul; 8():96. PubMed ID: 23829769
[TBL] [Abstract][Full Text] [Related]
47. Sco2 deficient mice develop increased adiposity and insulin resistance.
Hill S; Deepa SS; Sataranatarajan K; Premkumar P; Pulliam D; Liu Y; Soto VY; Fischer KE; Van Remmen H
Mol Cell Endocrinol; 2017 Nov; 455():103-114. PubMed ID: 28428045
[TBL] [Abstract][Full Text] [Related]
48. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K; Kudin AP; Zsurka G; Kornblum C; Reimann J; Stüve B; Waltz S; Hattingen E; Thiele H; Nürnberg P; Rüb C; Voos W; Kopatz J; Neumann H; Kunz WS
Brain; 2016 Feb; 139(Pt 2):338-45. PubMed ID: 26685157
[TBL] [Abstract][Full Text] [Related]
49. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
Agostino A; Invernizzi F; Tiveron C; Fagiolari G; Prelle A; Lamantea E; Giavazzi A; Battaglia G; Tatangelo L; Tiranti V; Zeviani M
Hum Mol Genet; 2003 Feb; 12(4):399-413. PubMed ID: 12566387
[TBL] [Abstract][Full Text] [Related]
50. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW
Brain; 2015 Dec; 138(Pt 12):3503-19. PubMed ID: 26510951
[TBL] [Abstract][Full Text] [Related]
51. Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome.
Barrientos A; Korr D; Tzagoloff A
EMBO J; 2002 Jan; 21(1-2):43-52. PubMed ID: 11782424
[TBL] [Abstract][Full Text] [Related]
52. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk D; Popowska E; Pronicki M; Karczmarewicz E; Tylek-Lemanska D; Sykut-Cegielska J; Szymanska-Dembinska T; Bielecka L; Krajewska-Walasek M; Pronicka E
Eur J Paediatr Neurol; 2009 Mar; 13(2):146-53. PubMed ID: 18583168
[TBL] [Abstract][Full Text] [Related]
53. A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Bruno C; Biancheri R; Garavaglia B; Biedi C; Rossi A; Lamba LD; Bado M; Greco M; Zeviani M; Minetti C
J Child Neurol; 2002 Mar; 17(3):233-6. PubMed ID: 12026244
[TBL] [Abstract][Full Text] [Related]
54. [Cytochrome c oxidase deficiency--SURF1 mutations].
Naito E; Ogawa Y
Nihon Rinsho; 2002 Apr; 60 Suppl 4():446-9. PubMed ID: 12013909
[No Abstract] [Full Text] [Related]
55. Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.
Rodinová M; Trefilová E; Honzík T; Tesařová M; Zeman J; Hansíková H
Folia Biol (Praha); 2014; 60(6):268-74. PubMed ID: 25629267
[TBL] [Abstract][Full Text] [Related]
56. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Papadopoulou LC; Sue CM; Davidson MM; Tanji K; Nishino I; Sadlock JE; Krishna S; Walker W; Selby J; Glerum DM; Coster RV; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo DC; Bonilla E; Hirano M; DiMauro S; Schon EA
Nat Genet; 1999 Nov; 23(3):333-7. PubMed ID: 10545952
[TBL] [Abstract][Full Text] [Related]
57. Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Rossi A; Biancheri R; Bruno C; Di Rocco M; Calvi A; Pessagno A; Tortori-Donati P
AJNR Am J Neuroradiol; 2003; 24(6):1188-91. PubMed ID: 12812953
[TBL] [Abstract][Full Text] [Related]
58. Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Sacconi S; Salviati L; Sue CM; Shanske S; Davidson MM; Bonilla E; Naini AB; De Vivo DC; DiMauro S
Pediatr Res; 2003 Feb; 53(2):224-30. PubMed ID: 12538779
[TBL] [Abstract][Full Text] [Related]
59. Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.
Dubot A; Hervouet E; Mandon G; Zabot MT; Godinot C
Mitochondrion; 2004 Jun; 4(1):41-7. PubMed ID: 16120373
[TBL] [Abstract][Full Text] [Related]
60. Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast.
Nijtmans LG; Artal Sanz M; Bucko M; Farhoud MH; Feenstra M; Hakkaart GA; Zeviani M; Grivell LA
FEBS Lett; 2001 Jun; 498(1):46-51. PubMed ID: 11389896
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]