573 related articles for article (PubMed ID: 14749350)
41. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Nouws J; Nijtmans LG; Smeitink JA; Vogel RO
Brain; 2012 Jan; 135(Pt 1):12-22. PubMed ID: 22036961
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Blue native polyacrylamide gel electrophoresis: a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation.
Leary SC
Methods Mol Biol; 2012; 837():195-206. PubMed ID: 22215549
[TBL] [Abstract][Full Text] [Related]
44. Respiratory complexes III and IV are not essential for the assembly/stability of complex I in fungi.
Maas MF; Krause F; Dencher NA; Sainsard-Chanet A
J Mol Biol; 2009 Mar; 387(2):259-69. PubMed ID: 19111556
[TBL] [Abstract][Full Text] [Related]
45. Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
Calvaruso MA; Willems P; van den Brand M; Valsecchi F; Kruse S; Palmiter R; Smeitink J; Nijtmans L
Hum Mol Genet; 2012 Jan; 21(1):115-20. PubMed ID: 21965299
[TBL] [Abstract][Full Text] [Related]
46. Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency.
Antonicka H; Ogilvie I; Taivassalo T; Anitori RP; Haller RG; Vissing J; Kennaway NG; Shoubridge EA
J Biol Chem; 2003 Oct; 278(44):43081-8. PubMed ID: 12941961
[TBL] [Abstract][Full Text] [Related]
47. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z; Jambou M; Rio M; Bole-Feysot C; de Lonlay P; Barnerias C; Desguerre I; Bonnemains C; Guillermet C; Steffann J; Munnich A; Bonnefont JP; Rötig A; Lebre AS
Biochim Biophys Acta; 2012 Jun; 1822(6):1062-9. PubMed ID: 22326555
[TBL] [Abstract][Full Text] [Related]
48. Genetic bases of mitochondrial respiratory chain disorders.
Rötig A
Diabetes Metab; 2010 Apr; 36(2):97-107. PubMed ID: 20093061
[TBL] [Abstract][Full Text] [Related]
49. Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
Breuer ME; Willems PH; Smeitink JA; Koopman WJ; Nooteboom M
IUBMB Life; 2013 Mar; 65(3):202-8. PubMed ID: 23378164
[TBL] [Abstract][Full Text] [Related]
50. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Gerards M; van den Bosch BJ; Danhauser K; Serre V; van Weeghel M; Wanders RJ; Nicolaes GA; Sluiter W; Schoonderwoerd K; Scholte HR; Prokisch H; Rötig A; de Coo IF; Smeets HJ
Brain; 2011 Jan; 134(Pt 1):210-9. PubMed ID: 20929961
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. Nuclear gene defects in respiratory chain disorders.
Shoubridge EA
Semin Neurol; 2001 Sep; 21(3):261-7. PubMed ID: 11641816
[TBL] [Abstract][Full Text] [Related]
53. Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
Pagniez-Mammeri H; Loublier S; Legrand A; Bénit P; Rustin P; Slama A
Mol Genet Metab; 2012 Feb; 105(2):163-72. PubMed ID: 22142868
[TBL] [Abstract][Full Text] [Related]
54. Coevolution predicts direct interactions between mtDNA-encoded and nDNA-encoded subunits of oxidative phosphorylation complex i.
Gershoni M; Fuchs A; Shani N; Fridman Y; Corral-Debrinski M; Aharoni A; Frishman D; Mishmar D
J Mol Biol; 2010 Nov; 404(1):158-71. PubMed ID: 20868692
[TBL] [Abstract][Full Text] [Related]
55. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
Vogel RO; van den Brand MA; Rodenburg RJ; van den Heuvel LP; Tsuneoka M; Smeitink JA; Nijtmans LG
Mol Genet Metab; 2007 Jun; 91(2):176-82. PubMed ID: 17383918
[TBL] [Abstract][Full Text] [Related]
56. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Ostergaard E; Rodenburg RJ; van den Brand M; Thomsen LL; Duno M; Batbayli M; Wibrand F; Nijtmans L
J Med Genet; 2011 Nov; 48(11):737-40. PubMed ID: 21617257
[TBL] [Abstract][Full Text] [Related]
57. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ; Wanschers BF; Szklarczyk R; Mountford HS; Wijeyeratne XW; van den Brand MA; Leenders AM; Rodenburg RJ; Reljić B; Compton AG; Frazier AE; Bruno DL; Christodoulou J; Endo H; Ryan MT; Nijtmans LG; Huynen MA; Thorburn DR
PLoS Genet; 2013; 9(12):e1004034. PubMed ID: 24385928
[TBL] [Abstract][Full Text] [Related]
58. Molecular gene therapy: overexpression of the alternative NADH dehydrogenase NDI1 restores overall physiology in a fungal model of respiratory complex I deficiency.
Maas MF; Sellem CH; Krause F; Dencher NA; Sainsard-Chanet A
J Mol Biol; 2010 May; 399(1):31-40. PubMed ID: 20398675
[TBL] [Abstract][Full Text] [Related]
59. Mitochondrial and nuclear genes as the cause of complex I deficiency.
Rezaee AR; Azadi A; Houshmand M; Mahmoodi F; Purpak Z; Safaei S; Karimi P; Ghabaee M; Sahraian MA
Genet Mol Res; 2013 Sep; 12(3):3551-4. PubMed ID: 24065688
[TBL] [Abstract][Full Text] [Related]
60. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
McKenzie M; Tucker EJ; Compton AG; Lazarou M; George C; Thorburn DR; Ryan MT
J Mol Biol; 2011 Dec; 414(3):413-26. PubMed ID: 22019594
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
