These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 10524227)

  • 1. Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.
    von Kleist-Retzow JC; Vial E; Chantrel-Groussard K; Rötig A; Munnich A; Rustin P; Taanman JW
    Biochim Biophys Acta; 1999 Sep; 1455(1):35-44. PubMed ID: 10524227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cytochrome c oxidase deficiency.
    Shoubridge EA
    Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
    Rahman S; Taanman JW; Cooper JM; Nelson I; Hargreaves I; Meunier B; Hanna MG; García JJ; Capaldi RA; Lake BD; Leonard JV; Schapira AH
    Am J Hum Genet; 1999 Oct; 65(4):1030-9. PubMed ID: 10486321
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
    Jaksch M; Paret C; Stucka R; Horn N; Müller-Höcker J; Horvath R; Trepesch N; Stecker G; Freisinger P; Thirion C; Müller J; Lunkwitz R; Rödel G; Shoubridge EA; Lochmüller H
    Hum Mol Genet; 2001 Dec; 10(26):3025-35. PubMed ID: 11751685
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.
    Rahman S; Lake BD; Taanman JW; Hanna MG; Cooper JM; Schapira AH; Leonard JV
    Brain; 2000 Mar; 123 Pt 3():591-600. PubMed ID: 10686181
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
    Merante F; Petrova-Benedict R; MacKay N; Mitchell G; Lambert M; Morin C; De Braekeleer M; Laframboise R; Gagné R; Robinson BH
    Am J Hum Genet; 1993 Aug; 53(2):481-7. PubMed ID: 8392290
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Molecular defects in cytochrome oxidase in mitochondrial diseases.
    DiMauro S; Zeviani M; Rizzuto R; Lombes A; Nakase H; Bonilla E; Miranda A; Schon E
    J Bioenerg Biomembr; 1988 Jun; 20(3):353-64. PubMed ID: 2841309
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Genetic defects of cytochrome c oxidase assembly.
    Pecina P; Houstková H; Hansíková H; Zeman J; Houstek J
    Physiol Res; 2004; 53 Suppl 1():S213-23. PubMed ID: 15119951
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.
    Nijtmans LG; Barth PG; Lincke CR; Van Galen MJ; Zwart R; Klement P; Bolhuis PA; Ruitenbeek W; Wanders RJ; Van den Bogert C
    Biochim Biophys Acta; 1995 Apr; 1270(2-3):193-201. PubMed ID: 7727543
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human cytochrome oxidase deficiency.
    Robinson BH
    Pediatr Res; 2000 Nov; 48(5):581-5. PubMed ID: 11044474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
    Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles.
    Hanson BJ; Carrozzo R; Piemonte F; Tessa A; Robinson BH; Capaldi RA
    J Biol Chem; 2001 May; 276(19):16296-301. PubMed ID: 11278850
    [TBL] [Abstract][Full Text] [Related]  

  • 18. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
    Parfait B; Percheron A; Chretien D; Rustin P; Munnich A; Rötig A
    Hum Genet; 1997 Dec; 101(2):247-50. PubMed ID: 9402980
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome.
    Possekel S; Marsac C; Kadenbach B
    Biochim Biophys Acta; 1996 Aug; 1316(3):153-9. PubMed ID: 8781533
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
    Ostergaard E; Weraarpachai W; Ravn K; Born AP; Jønson L; Duno M; Wibrand F; Shoubridge EA; Vissing J
    J Med Genet; 2015 Mar; 52(3):203-7. PubMed ID: 25604084
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.