| 1 | SNELS, SURF1
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| Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
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| Ribeiro C, do Carmo Macário M, Viegas AT, Pratas J, Santos MJ, Simőes M, Mendes C, Bacalhau M, Garcia P, Diogo L, Grazina M.
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| Mitochondrion 31:84-88. doi: 10.1016/j.mito.2016.10.004.
2016
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| 2 | CMT4K, SURF1
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| Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.
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| Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G.
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| Neuromuscul Disord 26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008.
2016
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| 3 | SURF1
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| Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.
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| Kovářová N, Pecina P, Nůsková H, Vrbacký M, Zeviani M, Mráček T, Viscomi C, Houštěk J.
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| Biochim Biophys Acta 1862(4):705-15. doi: 10.1016/j.bbadis.2016.01.007.
2016
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| 4 | SNELS, SURF1
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| Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India.
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| Sonam K, Bindu PS, Bharath MS, Govindaraj P, Gayathri N, Arvinda HR, Chiplunkar S, Nagappa M, Sinha S, Khan NA, Nunia V, Paramasivam A, Thangaraj K, Taly AB.
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| Mitochondrion itochondrion. 2016 Nov 5. pii: S1567-7249(16)30112-X. doi: 10.1016/j.mito.2016.11.002. [Epub ahead of print]
2016
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| 5 | CMT4K, SURF1
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| SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
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| Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B.
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| Neurology 81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518.
2013
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| 6 | SURF1
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| Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice.
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| Lin AL, Pulliam DA, Deepa SS, Halloran JJ, Hussong SA, Burbank RR, Bresnen A, Liu Y, Podlutskaya N, Soundararajan A, Muir E, Duong TQ, Bokov AF, Viscomi C, Zeviani M, Richardson AG, Van Remmen H, Fox PT, Galvan V.
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| J Cereb Blood Flow Metab 33(10):1605-11. doi: 10.1038/jcbfm.2013.116.
2013
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| 7 | SNELS, SURF1
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| SURF1-associated Leigh syndrome: a case series and novel mutations.
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| Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.
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| Hum Mutat 33(8):1192-200. doi: 10.1002/humu.22095.
2012
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| 8 | SURF1
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| Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
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| Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.
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| Biochim Biophys Acta 1822(7):1114-24. doi: 10.1016/j.bbadis.2012.03.007.
2012
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| 9 | SURF1
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| Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome.
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| Stettner GM, Viscomi C, Zeviani M, Wilichowski E, Dutschmann M.
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| Mitochondrion 11(3):413-20. doi: 10.1016/j.mito.2010.12.011.
2011
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| 10 | SNELS, SURF1
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| Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.
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| Bestwick M, Jeong MY, Khalimonchuk O, Kim H, Winge DR.
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| Mol Cell Biol 30(18):4480-91. Epub 2010 Jul 12. 2010
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| 11 | SNELS, SURF1
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| SURF1 missense mutations promote a mild Leigh phenotype.
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| Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E.
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| Clin Genet 76(2):195-204.PMID: 19780766 2009
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| 12 | SURF1
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| Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
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| Bundschuh FA, Hannappel A, Anderka O, Ludwig B.
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| J Biol Chem 284(38):25735-41. Epub 2009 Jul 22.PMID: 19625251 2009
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| 13 | SNELS, SURF1
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| Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
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| Pronicki M, Matyja E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Karkucinska-Wieckowska A, Karczmarewicz E, Grajkowska W, Kmiec T, Popowska E, Sykut-Cegielska J.
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| J Clin Pathol 61(4):460-6. Epub 2007 Oct 1.PMID: 17908801 2008
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| 14 | SNELS, SURF1
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| Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.
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| Yźksel A, Seven M, Cetincelik U, YeĽil G, Kšksal V.
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| Pediatr Neurol 34(6):486-9. 2006
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| 15 | SNELS, SURF1
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| Hypertrichosis in patients with SURF1 mutations.
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| Ostergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M.
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| Am J Med Genet A 138(4):384-8. 2005
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| 16 | SNELS, SURF1
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| SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
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| Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A.
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| Neurology 61(7):991-3. 2003
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| 17 | SURF1
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| Mutations in SURF1 are not specifically associated with Leigh syndrome.
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| Von Kleist-Retzow JC, Yao J, Taanman JW, Chantrel K, Chretien D, Cormier-Daire V, Rotig A, Munnich A, Rustin P, Shoubridge EA.
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| J Med Genet 38(2):109-13. No abstract available. 2001
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| 18 | SURF1
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| Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
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| Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C.
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| Hum Mutat 17(5):374-81. 2001
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| 19 | SNELS, SURF1
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| A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis.
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| Williams SL, Taanman JW, Hansikova H, Houst'kova H, Chowdhury S, Zeman J, Houstek J.
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| Mol Genet Metab 73(4):340-3. 2001
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| 20 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 21 | SNELS, SURF1
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| Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
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| Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C.
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| Hum Genet 106(2):194-205. 2000
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| 22 | SCO2, SURF1
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| Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
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| Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S.
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| Ann Neurol 47(5):589-95. 2000
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| 23 | SURF1
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| Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
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| 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.
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| Ann Neurol 46(2):161-6 1999
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| 24 | SNELS, SURF1
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| Expression and functional analysis of SURF1 in leigh syndrome patients with cytochrome c oxidase deficiency.
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| Yao J, Shoubridge EA.
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| Hum Mol Genet 8(13):2541-9 1999
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| 25 | SNELS, SURF1
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| Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
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| Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.
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| Hum Genet 105(6):560-3 1999
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| 26 | SNELS, SURF1
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| Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
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| Poyau A, Buchet K, Godinot C.
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| FEBS Lett 462(3):416-20. 1999
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| 27 | ABO, RPL7A, SURF@, SURF1, SURF2, SURF4, MED22, SURF6
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| The human surfeit locus.
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| Duhig T, et al.
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| Genomics 52 : 72-78. 1998
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| 28 | SNELS, SURF1
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| Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency.
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| 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.
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| Am J Hum Genet 63 : 1609-1621. 1998
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| 29 | SNELS, SURF1
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| SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
|
| Zhu Z, et al.
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| Nat Genet 20 : 337-343. 1998
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| 30 | SNELS, SURF1
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| A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.
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| Munaro M, et al.
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| Hum Mol Genet 6 : 221-228. 1997
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| 31 | SURF1
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| SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration.
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| Mashkevich G, Repetto B, Glerum DM, Jin C, Tzagoloff A.
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| J Biol Chem 272(22):14356-64. 1997
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| 32 | LGS, PDHA1, SNE1, SNELS, SURF1
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| Leigh syndrome : clinical features and biochemical and DNA abnormalities.
|
| Rahman S, et al.
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| Ann Neurol 39 : 343-351. 1996
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| 33 | SURF1, SURF2
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| CpG methylation has differential effects on the binding of YY1 and ETS proteins to the bi-directional promoter of the Surf-1 and Surf-2 genes.
|
| Gaston K, et al.
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| Nucleic Acids Res 23 : 901-909. 1995
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| 34 | SURF1, SURF2, SURF4, MED22, SURF@
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| The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1.
|
| Yon J, et al.
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| Hum Mol Genet 2 : 237-240. 1993
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| 35 | SNELS, SURF1
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| Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
|
| Lombes A, et al.
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| Neurology 41 : 491- 498. 1991
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| 36 | RPL7A, SURF1, SURF2, SURF4, MED22, SURF@
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| Localization of the Surfeit gene cluster containing the ribosomal protein gene L7a to chromosome bands 9q33-34.
|
| Yon J, Palmer RW, Sheer D, Fried M.
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| Ann Hum Genet 53 : 149-155. 1989
|