BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

492 related articles for article (PubMed ID: 29348607)

  • 1. Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
    Leipnitz G; Mohsen AW; Karunanidhi A; Seminotti B; Roginskaya VY; Markantone DM; Grings M; Mihalik SJ; Wipf P; Van Houten B; Vockley J
    Sci Rep; 2018 Jan; 8(1):1165. PubMed ID: 29348607
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
    Seminotti B; Leipnitz G; Karunanidhi A; Kochersperger C; Roginskaya VY; Basu S; Wang Y; Wipf P; Van Houten B; Mohsen AW; Vockley J
    Hum Mol Genet; 2019 Mar; 28(6):928-941. PubMed ID: 30445591
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.
    Grings M; Seminotti B; Karunanidhi A; Ghaloul-Gonzalez L; Mohsen AW; Wipf P; Palmfeldt J; Vockley J; Leipnitz G
    Sci Rep; 2019 Sep; 9(1):12651. PubMed ID: 31477743
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
    Iannetti EF; Smeitink JAM; Willems PHGM; Beyrath J; Koopman WJH
    Cell Death Dis; 2018 Nov; 9(11):1135. PubMed ID: 30429455
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?
    Koopman WJ; Verkaart S; Visch HJ; van Emst-de Vries S; Nijtmans LG; Smeitink JA; Willems PH
    Am J Physiol Cell Physiol; 2007 Jul; 293(1):C22-9. PubMed ID: 17428841
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
    Nouws J; Te Brinke H; Nijtmans LG; Houten SM
    Hum Mol Genet; 2014 Mar; 23(5):1311-9. PubMed ID: 24158852
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The effect of small molecules on nuclear-encoded translation diseases.
    Soiferman D; Ayalon O; Weissman S; Saada A
    Biochimie; 2014 May; 100():184-91. PubMed ID: 24012549
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
    Schiff M; Haberberger B; Xia C; Mohsen AW; Goetzman ES; Wang Y; Uppala R; Zhang Y; Karunanidhi A; Prabhu D; Alharbi H; Prochownik EV; Haack T; Häberle J; Munnich A; Rötig A; Taylor RW; Nicholls RD; Kim JJ; Prokisch H; Vockley J
    Hum Mol Genet; 2015 Jun; 24(11):3238-47. PubMed ID: 25721401
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.
    Visch HJ; Koopman WJ; Leusink A; van Emst-de Vries SE; van den Heuvel LW; Willems PH; Smeitink JA
    Biochim Biophys Acta; 2006 Jan; 1762(1):115-23. PubMed ID: 16213125
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
    Blanchet L; Smeitink JA; van Emst-de Vries SE; Vogels C; Pellegrini M; Jonckheere AI; Rodenburg RJ; Buydens LM; Beyrath J; Willems PH; Koopman WJ
    Sci Rep; 2015 Jan; 5():8035. PubMed ID: 25620325
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.
    Distelmaier F; Visch HJ; Smeitink JA; Mayatepek E; Koopman WJ; Willems PH
    J Mol Med (Berl); 2009 May; 87(5):515-22. PubMed ID: 19255735
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
    Nouws J; Nijtmans L; Houten SM; van den Brand M; Huynen M; Venselaar H; Hoefs S; Gloerich J; Kronick J; Hutchin T; Willems P; Rodenburg R; Wanders R; van den Heuvel L; Smeitink J; Vogel RO
    Cell Metab; 2010 Sep; 12(3):283-94. PubMed ID: 20816094
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.
    Melcher M; Danhauser K; Seibt A; Degistirici Ö; Baertling F; Kondadi AK; Reichert AS; Koopman WJH; Willems PHGM; Rodenburg RJ; Mayatepek E; Meisel R; Distelmaier F
    Stem Cell Res Ther; 2017 Jun; 8(1):150. PubMed ID: 28646906
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.
    Raffa S; Scrofani C; Valente S; Micaloni A; Forte M; Bianchi F; Coluccia R; Geurts AM; Sciarretta S; Volpe M; Torrisi MR; Rubattu S
    Hum Mol Genet; 2017 Dec; 26(23):4541-4555. PubMed ID: 28973657
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.