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Journal Abstract Search

233 related items for PubMed ID: 33438237

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 21(15):3435-48. PubMed ID: 22611163
    [Abstract] [Full Text] [Related]

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  • 4. 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 Aug 01; 19(7):487-493. PubMed ID: 31418342
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 19(3):212-6. PubMed ID: 19249206
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 84(5):659-673. PubMed ID: 30232818
    [Abstract] [Full Text] [Related]

  • 7. ETF dehydrogenase advances in molecular genetics and impact on treatment.
    Missaglia S, Tavian D, Angelini C.
    Crit Rev Biochem Mol Biol; 2021 Aug 01; 56(4):360-372. PubMed ID: 33823724
    [Abstract] [Full Text] [Related]

  • 8. ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.
    Chokchaiwong S, Kuo YT, Hsu SP, Hsu YC, Lin SH, Zhong WB, Lin YF, Kao SH.
    Cells; 2019 Jan 31; 8(2):. PubMed ID: 30709034
    [Abstract] [Full Text] [Related]

  • 9. 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 31; 89(6):569-76. PubMed ID: 21347544
    [Abstract] [Full Text] [Related]

  • 10. Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
    Fu HX, Liu XY, Wang ZQ, Jin M, Wang DN, He JJ, Lin MT, Wang N.
    Neurol Sci; 2016 Jul 31; 37(7):1099-105. PubMed ID: 27000805
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 130(Pt 8):2045-54. PubMed ID: 17584774
    [Abstract] [Full Text] [Related]

  • 12. 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 13; 17(1):254. PubMed ID: 30424791
    [Abstract] [Full Text] [Related]

  • 13. 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 21; 11():43. PubMed ID: 22013910
    [Abstract] [Full Text] [Related]

  • 14. 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 21; 109(2):154-60. PubMed ID: 23628458
    [Abstract] [Full Text] [Related]

  • 15. 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 21; 1868(6):140393. PubMed ID: 32087359
    [Abstract] [Full Text] [Related]

  • 16. [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
    Lu J, Ji L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug 21; 31(4):428-32. PubMed ID: 25119904
    [Abstract] [Full Text] [Related]

  • 17. Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.
    Chen W, Zhang Y, Ni Y, Cai S, Zheng X, Mastaglia FL, Wu J.
    BMC Neurol; 2019 Dec 18; 19(1):330. PubMed ID: 31852447
    [Abstract] [Full Text] [Related]

  • 18. Novel variant of ETFDH leading to multiple acyl-CoA dehydrogenase deficiency by promoting protein degradation via ubiquitin proteasome pathway.
    Zhang B, Zhao Y.
    Clin Chim Acta; 2022 May 01; 530():104-112. PubMed ID: 35314173
    [Abstract] [Full Text] [Related]

  • 19. 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 27; 404(2):95-9. PubMed ID: 19265687
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