BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

265 related articles for article (PubMed ID: 22013910)

  • 1. Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.
    Er TK; Chen CC; Liu YY; Chang HC; Chien YH; Chang JG; Hwang JK; Jong YJ
    BMC Struct Biol; 2011 Oct; 11():43. PubMed ID: 22013910
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.
    Xu J; Li D; Lv J; Xu X; Wen B; Lin P; Liu F; Ji K; Shan J; Li H; Li W; Zhao Y; Zhao D; Pok JY; Yan C
    Ann Neurol; 2018 Nov; 84(5):659-673. PubMed ID: 30232818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
    Cornelius N; Frerman FE; Corydon TJ; Palmfeldt J; Bross P; Gregersen N; Olsen RK
    Hum Mol Genet; 2012 Aug; 21(15):3435-48. PubMed ID: 22611163
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase is the electron acceptor for electron transfer flavoprotein.
    Swanson MA; Usselman RJ; Frerman FE; Eaton GR; Eaton SS
    Biochemistry; 2008 Aug; 47(34):8894-901. PubMed ID: 18672901
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.
    Lucas TG; Henriques BJ; Gomes CM
    Biochim Biophys Acta Proteins Proteom; 2020 Jun; 1868(6):140393. PubMed ID: 32087359
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
    Henriques BJ; Lucas TG; Martins E; Gaspar A; Bandeira A; Nogueira C; Brandão O; Rocha H; Vilarinho L; Gomes CM
    Curr Mol Med; 2019; 19(7):487-493. PubMed ID: 31418342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
    Liu XY; Chen XJ; Zhao M; Wang ZQ; Chen HZ; Li HF; Wang CJ; Wu SF; Peng C; Yin Y; Fu HX; Lin MT; Yu L; Xiong ZQ; Wu ZY; Wang N
    J Inherit Metab Dis; 2021 Mar; 44(2):450-468. PubMed ID: 33438237
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
    Zhang J; Frerman FE; Kim JJ
    Proc Natl Acad Sci U S A; 2006 Oct; 103(44):16212-7. PubMed ID: 17050691
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Missaglia S; Tavian D; Moro L; Angelini C
    Lipids Health Dis; 2018 Nov; 17(1):254. PubMed ID: 30424791
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    Olsen RK; Olpin SE; Andresen BS; Miedzybrodzka ZH; Pourfarzam M; Merinero B; Frerman FE; Beresford MW; Dean JC; Cornelius N; Andersen O; Oldfors A; Holme E; Gregersen N; Turnbull DM; Morris AA
    Brain; 2007 Aug; 130(Pt 8):2045-54. PubMed ID: 17584774
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Liang WC; Ohkuma A; Hayashi YK; López LC; Hirano M; Nonaka I; Noguchi S; Chen LH; Jong YJ; Nishino I
    Neuromuscul Disord; 2009 Mar; 19(3):212-6. PubMed ID: 19249206
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ETF dehydrogenase advances in molecular genetics and impact on treatment.
    Missaglia S; Tavian D; Angelini C
    Crit Rev Biochem Mol Biol; 2021 Aug; 56(4):360-372. PubMed ID: 33823724
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impact of mutations on the midpoint potential of the [4Fe-4S]+1,+2 cluster and on catalytic activity in electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO).
    Usselman RJ; Fielding AJ; Frerman FE; Watmough NJ; Eaton GR; Eaton SS
    Biochemistry; 2008 Jan; 47(1):92-100. PubMed ID: 18069858
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The electron transfer flavoprotein: ubiquinone oxidoreductases.
    Watmough NJ; Frerman FE
    Biochim Biophys Acta; 2010 Dec; 1797(12):1910-6. PubMed ID: 20937244
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
    Cornelius N; Byron C; Hargreaves I; Guerra PF; Furdek AK; Land J; Radford WW; Frerman F; Corydon TJ; Gregersen N; Olsen RK
    Hum Mol Genet; 2013 Oct; 22(19):3819-27. PubMed ID: 23727839
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.
    Henriques BJ; Rodrigues JV; Olsen RK; Bross P; Gomes CM
    J Biol Chem; 2009 Feb; 284(7):4222-9. PubMed ID: 19088074
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
    Wen B; Li D; Shan J; Liu S; Li W; Zhao Y; Lin P; Zheng J; Li D; Gong Y; Yan C
    Mol Genet Metab; 2013 Jun; 109(2):154-60. PubMed ID: 23628458
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Law LK; Tang NL; Hui J; Fung SL; Ruiter J; Wanders RJ; Fok TF; Lam CW
    Clin Chim Acta; 2009 Jun; 404(2):95-9. PubMed ID: 19265687
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Er TK; Liang WC; Chang JG; Jong YJ
    Clin Chim Acta; 2010 May; 411(9-10):690-9. PubMed ID: 20138856
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
    Wang ZQ; Chen XJ; Murong SX; Wang N; Wu ZY
    J Mol Med (Berl); 2011 Jun; 89(6):569-76. PubMed ID: 21347544
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.