BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

144 related articles for article (PubMed ID: 11165261)

  • 21. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
    Iuso A; Scacco S; Piccoli C; Bellomo F; Petruzzella V; Trentadue R; Minuto M; Ripoli M; Capitanio N; Zeviani M; Papa S
    J Biol Chem; 2006 Apr; 281(15):10374-80. PubMed ID: 16478720
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase.
    Papa S; Sardanelli AM; Cocco T; Speranza F; Scacco SC; Technikova-Dobrova Z
    FEBS Lett; 1996 Feb; 379(3):299-301. PubMed ID: 8603710
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY.
    Ahlers PM; Garofano A; Kerscher SJ; Brandt U
    Biochim Biophys Acta; 2000 Aug; 1459(2-3):258-65. PubMed ID: 11004438
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
    Bénit P; Steffann J; Lebon S; Chretien D; Kadhom N; de Lonlay P; Goldenberg A; Dumez Y; Dommergues M; Rustin P; Munnich A; Rötig A
    Hum Genet; 2003 May; 112(5-6):563-6. PubMed ID: 12616398
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Activation of the cAMP cascade in human fibroblast cultures rescues the activity of oxidatively damaged complex I.
    De Rasmo D; Signorile A; Larizza M; Pacelli C; Cocco T; Papa S
    Free Radic Biol Med; 2012 Feb; 52(4):757-64. PubMed ID: 22198267
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.
    Ugalde C; Hinttala R; Timal S; Smeets R; Rodenburg RJ; Uusimaa J; van Heuvel LP; Nijtmans LG; Majamaa K; Smeitink JA
    Mol Genet Metab; 2007 Jan; 90(1):10-4. PubMed ID: 16996290
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
    Ngu LH; Nijtmans LG; Distelmaier F; Venselaar H; van Emst-de Vries SE; van den Brand MA; Stoltenborg BJ; Wintjes LT; Willems PH; van den Heuvel LP; Smeitink JA; Rodenburg RJ
    Biochim Biophys Acta; 2012 Feb; 1822(2):168-75. PubMed ID: 22036843
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I
    Ryoikibetsu Shokogun Shirizu; 2001; (36):129-31. PubMed ID: 11596342
    [No Abstract]   [Full Text] [Related]  

  • 29. cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.
    De Rasmo D; Panelli D; Sardanelli AM; Papa S
    Cell Signal; 2008 May; 20(5):989-97. PubMed ID: 18291624
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM; Boneh A; Chow CW; Ohtake A; Ryan MT; Thyagarajan D; Thorburn DR
    Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
    Assereto S; Robbiano A; Di Rocco M; Rossi A; Cassandrini D; Panicucci C; Brigati G; Biancheri R; Bruno C; Minetti C; Trucks H; Sander T; Zara F; Gazzerro E
    Clin Genet; 2014 Jul; 86(1):99-101. PubMed ID: 24020637
    [No Abstract]   [Full Text] [Related]  

  • 32. Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
    van de Wal MAE; Adjobo-Hermans MJW; Keijer J; Schirris TJJ; Homberg JR; Wieckowski MR; Grefte S; van Schothorst EM; van Karnebeek C; Quintana A; Koopman WJH
    Brain; 2022 Mar; 145(1):45-63. PubMed ID: 34849584
    [TBL] [Abstract][Full Text] [Related]  

  • 33. CIA30 complex I assembly factor: a candidate for human complex I deficiency?
    Janssen R; Smeitink J; Smeets R; van Den Heuvel L
    Hum Genet; 2002 Mar; 110(3):264-70. PubMed ID: 11935339
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
    Bénit P; Beugnot R; Chretien D; Giurgea I; De Lonlay-Debeney P; Issartel JP; Corral-Debrinski M; Kerscher S; Rustin P; Rötig A; Munnich A
    Hum Mutat; 2003 Jun; 21(6):582-6. PubMed ID: 12754703
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel
    González-Quintana A; García-Consuegra I; Belanger-Quintana A; Serrano-Lorenzo P; Lucia A; Blázquez A; Docampo J; Ugalde C; Morán M; Arenas J; Martín MA
    Genes (Basel); 2020 Jul; 11(8):. PubMed ID: 32722639
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mammalian complex I: a regulable and vulnerable pacemaker in mitochondrial respiratory function.
    Papa S; De Rasmo D; Scacco S; Signorile A; Technikova-Dobrova Z; Palmisano G; Sardanelli AM; Papa F; Panelli D; Scaringi R; Santeramo A
    Biochim Biophys Acta; 2008; 1777(7-8):719-28. PubMed ID: 18455500
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
    van den Bosch BJ; Gerards M; Sluiter W; Stegmann AP; Jongen EL; Hellebrekers DM; Oegema R; Lambrichs EH; Prokisch H; Danhauser K; Schoonderwoerd K; de Coo IF; Smeets HJ
    J Med Genet; 2012 Jan; 49(1):10-5. PubMed ID: 22114105
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease.
    Huang MY; Jong YJ; Tsai JL; Liu GC; Chiang CH; Pang CY; Wei YH
    J Formos Med Assoc; 1996 Apr; 95(4):325-8. PubMed ID: 8935303
    [TBL] [Abstract][Full Text] [Related]  

  • 39. cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cells.
    Papa S; Scacco S; De Rasmo D; Signorile A; Papa F; Panelli D; Nicastro A; Scaringi R; Santeramo A; Roca E; Trentadue R; Larizza M
    Biochim Biophys Acta; 2010; 1797(6-7):649-58. PubMed ID: 20303927
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
    Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O
    Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.