BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 19185523)

  • 61. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M
    BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Compound heterozygosity for severe and hypomorphic
    Gerber S; Ding MG; Gérard X; Zwicker K; Zanlonghi X; Rio M; Serre V; Hanein S; Munnich A; Rotig A; Bianchi L; Amati-Bonneau P; Elpeleg O; Kaplan J; Brandt U; Rozet JM
    J Med Genet; 2017 May; 54(5):346-356. PubMed ID: 28031252
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Understanding mitochondrial complex I assembly in health and disease.
    Mimaki M; Wang X; McKenzie M; Thorburn DR; Ryan MT
    Biochim Biophys Acta; 2012 Jun; 1817(6):851-62. PubMed ID: 21924235
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
    Martín MA; Blázquez A; Gutierrez-Solana LG; Fernández-Moreira D; Briones P; Andreu AL; Garesse R; Campos Y; Arenas J
    Arch Neurol; 2005 Apr; 62(4):659-61. PubMed ID: 15824269
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Mutation in mitochondrial complex I ND6 subunit is associated with defective response to hypoxia in human glioma cells.
    DeHaan C; Habibi-Nazhad B; Yan E; Salloum N; Parliament M; Allalunis-Turner J
    Mol Cancer; 2004 Jul; 3():19. PubMed ID: 15248896
    [TBL] [Abstract][Full Text] [Related]  

  • 66. An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.
    Cavaliere A; Marchet S; Di Meo I; Tiranti V
    J Vis Exp; 2022 Mar; (181):. PubMed ID: 35343952
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
    Lebon S; Minai L; Chretien D; Corcos J; Serre V; Kadhom N; Steffann J; Pauchard JY; Munnich A; Bonnefont JP; Rötig A
    Mol Genet Metab; 2007; 92(1-2):104-8. PubMed ID: 17604671
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Development and characterization of a conditional mitochondrial complex I assembly system.
    Yadava N; Houchens T; Potluri P; Scheffler IE
    J Biol Chem; 2004 Mar; 279(13):12406-13. PubMed ID: 14722084
    [TBL] [Abstract][Full Text] [Related]  

  • 69. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
    Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX
    Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
    Roestenberg P; Manjeri GR; Valsecchi F; Smeitink JA; Willems PH; Koopman WJ
    Mitochondrion; 2012 Jan; 12(1):57-65. PubMed ID: 21757032
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Clinical and molecular findings in children with complex I deficiency.
    Bugiani M; Invernizzi F; Alberio S; Briem E; Lamantea E; Carrara F; Moroni I; Farina L; Spada M; Donati MA; Uziel G; Zeviani M
    Biochim Biophys Acta; 2004 Dec; 1659(2-3):136-47. PubMed ID: 15576045
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Animal models for mitochondrial disease.
    Wallace DC
    Methods Mol Biol; 2002; 197():3-54. PubMed ID: 12013805
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
    Sugiana C; Pagliarini DJ; McKenzie M; Kirby DM; Salemi R; Abu-Amero KK; Dahl HH; Hutchison WM; Vascotto KA; Smith SM; Newbold RF; Christodoulou J; Calvo S; Mootha VK; Ryan MT; Thorburn DR
    Am J Hum Genet; 2008 Oct; 83(4):468-78. PubMed ID: 18940309
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
    Jun AS; Trounce IA; Brown MD; Shoffner JM; Wallace DC
    Mol Cell Biol; 1996 Mar; 16(3):771-7. PubMed ID: 8622678
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Mitochondrial DNA and disease.
    Greaves LC; Reeve AK; Taylor RW; Turnbull DM
    J Pathol; 2012 Jan; 226(2):274-86. PubMed ID: 21989606
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase.
    Scheffler IE; Yadava N
    J Bioenerg Biomembr; 2001 Jun; 33(3):243-50. PubMed ID: 11695834
    [TBL] [Abstract][Full Text] [Related]  

  • 77. 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]  

  • 78. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.
    Brown MD; Starikovskaya E; Derbeneva O; Hosseini S; Allen JC; Mikhailovskaya IE; Sukernik RI; Wallace DC
    Hum Genet; 2002 Feb; 110(2):130-8. PubMed ID: 11935318
    [TBL] [Abstract][Full Text] [Related]  

  • 79. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
    Chae JH; Lee JS; Kim KJ; Hwang YS; Bonilla E; Tanji K; Hirano M
    Pediatr Res; 2007 May; 61(5 Pt 1):622-4. PubMed ID: 17413873
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
    Haack TB; Madignier F; Herzer M; Lamantea E; Danhauser K; Invernizzi F; Koch J; Freitag M; Drost R; Hillier I; Haberberger B; Mayr JA; Ahting U; Tiranti V; Rötig A; Iuso A; Horvath R; Tesarova M; Baric I; Uziel G; Rolinski B; Sperl W; Meitinger T; Zeviani M; Freisinger P; Prokisch H
    J Med Genet; 2012 Feb; 49(2):83-9. PubMed ID: 22200994
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.