166 related articles for article (PubMed ID: 12943968)
21. Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
Pronicki M; Matyja E; Piekutowska-Abramczuk D; Szymanska-Debinska T; Karkucinska-Wieckowska A; Karczmarewicz E; Grajkowska W; Kmiec T; Popowska E; Sykut-Cegielska J
J Clin Pathol; 2008 Apr; 61(4):460-6. PubMed ID: 17908801
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Tiranti V; Jaksch M; Hofmann S; Galimberti C; Hoertnagel K; Lulli L; Freisinger P; Bindoff L; Gerbitz KD; Comi GP; Uziel G; Zeviani M; Meitinger T
Ann Neurol; 1999 Aug; 46(2):161-6. PubMed ID: 10443880
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
Bundschuh FA; Hannappel A; Anderka O; Ludwig B
J Biol Chem; 2009 Sep; 284(38):25735-41. PubMed ID: 19625251
[TBL] [Abstract][Full Text] [Related]
26. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
[TBL] [Abstract][Full Text] [Related]
27. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
Teraoka M; Yokoyama Y; Ninomiya S; Inoue C; Yamashita S; Seino Y
Hum Genet; 1999 Dec; 105(6):560-3. PubMed ID: 10647889
[TBL] [Abstract][Full Text] [Related]
28. Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.
Pronicka E; Piekutowska-Abramczuk DH; Popowska E; Pronicki M; Karczmarewicz E; Sykut-Cegielskâ Y; Taybert J
J Inherit Metab Dis; 2001 Dec; 24(7):707-14. PubMed ID: 11804207
[TBL] [Abstract][Full Text] [Related]
29. Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.
Salviati L; Freehauf C; Sacconi S; DiMauro S; Thoma J; Tsai AC
Am J Med Genet A; 2004 Jul; 128A(2):195-8. PubMed ID: 15214016
[TBL] [Abstract][Full Text] [Related]
30. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Bugiani M; Tiranti V; Farina L; Uziel G; Zeviani M
J Med Genet; 2005 May; 42(5):e28. PubMed ID: 15863660
[TBL] [Abstract][Full Text] [Related]
31. Human cytochrome oxidase deficiency.
Robinson BH
Pediatr Res; 2000 Nov; 48(5):581-5. PubMed ID: 11044474
[TBL] [Abstract][Full Text] [Related]
32. Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.
van Riesen AK; Antonicka H; Ohlenbusch A; Shoubridge EA; Wilichowski EK
Neuropediatrics; 2006 Apr; 37(2):88-94. PubMed ID: 16773507
[TBL] [Abstract][Full Text] [Related]
33. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
Danis D; Brennerova K; Skopkova M; Kurdiova T; Ukropec J; Stanik J; Kolnikova M; Gasperikova D
Endocr Regul; 2018 Apr; 52(2):110-118. PubMed ID: 29715184
[TBL] [Abstract][Full Text] [Related]
34. N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
Haroon S; Yoon H; Seiler C; Osei-Frimpong B; He J; Nair RM; Mathew ND; Burg L; Kose M; Venkata CRM; Anderson VE; Nakamaru-Ogiso E; Falk MJ
Hum Mol Genet; 2023 Jun; 32(12):1988-2004. PubMed ID: 36795052
[TBL] [Abstract][Full Text] [Related]
35. A SURF1 gene mutation presenting as isolated leukodystrophy.
Rahman S; Brown RM; Chong WK; Wilson CJ; Brown GK
Ann Neurol; 2001 Jun; 49(6):797-800. PubMed ID: 11409433
[TBL] [Abstract][Full Text] [Related]
36. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
Sonam K; Khan NA; Bindu PS; Taly AB; Gayathri N; Bharath MM; Govindaraju C; Arvinda HR; Nagappa M; Sinha S; Thangaraj K
Brain Dev; 2014 Oct; 36(9):807-12. PubMed ID: 24262866
[TBL] [Abstract][Full Text] [Related]
37. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
Monnot S; Chabrol B; Cano A; Pellissier JF; Collignon P; Montfort MF; Paquis-Flucklinger V
Arch Pediatr; 2005 May; 12(5):568-71. PubMed ID: 15885549
[TBL] [Abstract][Full Text] [Related]
38. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Tay SK; Sacconi S; Akman HO; Morales JF; Morales A; De Vivo DC; Shanske S; Bonilla E; DiMauro S
J Child Neurol; 2005 Aug; 20(8):670-4. PubMed ID: 16225813
[TBL] [Abstract][Full Text] [Related]
39. Ablation of the mitochondrial complex IV assembly protein Surf1 leads to increased expression of the UPR(MT) and increased resistance to oxidative stress in primary cultures of fibroblasts.
Pharaoh G; Pulliam D; Hill S; Sataranatarajan K; Van Remmen H
Redox Biol; 2016 Aug; 8():430-8. PubMed ID: 27208630
[TBL] [Abstract][Full Text] [Related]
40. Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Ribeiro C; do Carmo Macário M; Viegas AT; Pratas J; Santos MJ; Simões M; Mendes C; Bacalhau M; Garcia P; Diogo L; Grazina M
Mitochondrion; 2016 Nov; 31():84-88. PubMed ID: 27756633
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
