BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 25615419)

  • 1. Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
    Björkman K; Sofou K; Darin N; Holme E; Kollberg G; Asin-Cayuela J; Holmberg Dahle KM; Oldfors A; Moslemi AR; Tulinius M
    Mitochondrion; 2015 Mar; 21():33-40. PubMed ID: 25615419
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
    Ferreira M; Torraco A; Rizza T; Fattori F; Meschini MC; Castana C; Go NE; Nargang FE; Duarte M; Piemonte F; Dionisi-Vici C; Videira A; Vilarinho L; Santorelli FM; Carrozzo R; Bertini E
    Neurogenetics; 2011 Feb; 12(1):9-17. PubMed ID: 21203893
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
    Marin SE; Mesterman R; Robinson B; Rodenburg RJ; Smeitink J; Tarnopolsky MA
    Gene; 2013 Mar; 516(1):162-7. PubMed ID: 23266820
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.
    Pagniez-Mammeri H; Landrieu P; Legrand A; Slama A
    Mol Genet Metab; 2010; 101(2-3):297-8. PubMed ID: 20797884
    [No Abstract]   [Full Text] [Related]  

  • 6. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.
    Kashani A; Thiffault I; Dilenge ME; Saint-Martin C; Guerrero K; Tran LT; Shoubridge E; van der Knaap MS; Braverman N; Bernard G
    Neurogenetics; 2014 Aug; 15(3):161-4. PubMed ID: 24952175
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
    Morán M; Rivera H; Sánchez-Aragó M; Blázquez A; Merinero B; Ugalde C; Arenas J; Cuezva JM; Martín MA
    Biochim Biophys Acta; 2010 May; 1802(5):443-53. PubMed ID: 20153825
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
    Hoefs SJ; Skjeldal OH; Rodenburg RJ; Nedregaard B; van Kaauwen EP; Spiekerkötter U; von Kleist-Retzow JC; Smeitink JA; Nijtmans LG; van den Heuvel LP
    Mol Genet Metab; 2010 Jul; 100(3):251-6. PubMed ID: 20382551
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
    Bénit P; Chretien D; Kadhom N; de Lonlay-Debeney P; Cormier-Daire V; Cabral A; Peudenier S; Rustin P; Munnich A; Rötig A
    Am J Hum Genet; 2001 Jun; 68(6):1344-52. PubMed ID: 11349233
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Progressive cavitating leukoencephalopathy: four cases and literatures review].
    Ren CH; Fang F; Cheng H; Ding CH; Chen CH; Zhang YJ; Shen DM
    Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):283-287. PubMed ID: 28441825
    [No Abstract]   [Full Text] [Related]  

  • 11. A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
    Baertling F; Sánchez-Caballero L; van den Brand MAM; Distelmaier F; Janssen MCH; Rodenburg RJT; Smeitink JAM; Nijtmans LGJ
    J Pediatr; 2018 May; 196():309-313.e3. PubMed ID: 29395179
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.
    Baertling F; Schaper J; Mayatepek E; Distelmaier F
    Neurology; 2013 Jul; 81(2):e10-1. PubMed ID: 23836946
    [No Abstract]   [Full Text] [Related]  

  • 13. Leigh Syndrome Due to
    Borna NN; Kishita Y; Sakai N; Hamada Y; Kamagata K; Kohda M; Ohtake A; Murayama K; Okazaki Y
    Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33182419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
    Srivastava A; Srivastava KR; Hebbar M; Galada C; Kadavigrere R; Su F; Cao X; Chinnaiyan AM; Girisha KM; Shukla A; Bielas SL
    Eur J Hum Genet; 2018 Nov; 26(11):1582-1587. PubMed ID: 29976978
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
    Varghese F; Atcheson E; Bridges HR; Hirst J
    Hum Mol Genet; 2015 Nov; 24(22):6350-60. PubMed ID: 26345448
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.
    Laugel V; This-Bernd V; Cormier-Daire V; Speeg-Schatz C; de Saint-Martin A; Fischbach M
    Pediatr Neurol; 2007 Jan; 36(1):54-7. PubMed ID: 17162199
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cystic Leucoencephalopathy in NDUFV1 Mutation.
    Wadhwa Y; Rohilla S; Kaushik JS
    Indian J Pediatr; 2018 Dec; 85(12):1128-1131. PubMed ID: 29948731
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Systematic Expression Analysis of Mitochondrial Complex I Identifies NDUFS1 as a Biomarker in Clear-Cell Renal-Cell Carcinoma.
    Ellinger J; Poss M; Brüggemann M; Gromes A; Schmidt D; Ellinger N; Tolkach Y; Dietrich D; Kristiansen G; Müller SC
    Clin Genitourin Cancer; 2017 Aug; 15(4):e551-e562. PubMed ID: 28063846
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.
    Alkhaldi HA; Vik SB
    Mitochondrion; 2023 Jan; 68():87-104. PubMed ID: 36462614
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.