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Journal Abstract Search

123 related items for PubMed ID: 35314173

  • 1. 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]

  • 2. 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 01; 44(2):450-468. PubMed ID: 33438237
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. 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]

  • 6. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
    Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y.
    Mol Genet Metab Rep; 2018 Sep 31; 16():15-19. PubMed ID: 29988809
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 31; 84(5):659-673. PubMed ID: 30232818
    [Abstract] [Full Text] [Related]

  • 9. Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency.
    Yuan G, Zhang X, Chen T, Lin J.
    Front Pediatr; 2022 Nov 31; 10():1038440. PubMed ID: 36683804
    [Abstract] [Full Text] [Related]

  • 10. Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
    Staretz-Chacham O, Amar S, Almashanu S, Pode-Shakked B, Saada A, Wormser O, Hershkovitz E.
    Genes (Basel); 2021 Jul 28; 12(8):. PubMed ID: 34440319
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 89(6):569-76. PubMed ID: 21347544
    [Abstract] [Full Text] [Related]

  • 12. 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 28; 1868(6):140393. PubMed ID: 32087359
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Chen M, Peng J, Wei W, Wang R, Xu H, Liu H.
    Int J Neurosci; 2018 Mar 27; 128(3):291-294. PubMed ID: 28914566
    [Abstract] [Full Text] [Related]

  • 17. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
    Ou M, Zhu L, Zhang Y, Zhang Y, Zhou J, Zhang Y, Chen X, Yang L, Li T, Su X, Hu Q, Wang W.
    BMC Med Genet; 2020 May 11; 21(1):98. PubMed ID: 32393189
    [Abstract] [Full Text] [Related]

  • 18. A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.
    Hu G, Zeng J, Wang C, Zhou W, Jia Z, Yang J, Zheng B.
    Front Pediatr; 2020 May 11; 8():118. PubMed ID: 32292771
    [Abstract] [Full Text] [Related]

  • 19. 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]

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