[1]Zhang L, Zhang J, Yang J, et al. PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data. Bioinformatics, 2013, 29(1): 124-125
[2]Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 2010, 26(5): 589-595
[3]Zhuo Z, Jin P, Li F, et al. A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. J Neurol Sci, 2015, 353(1-2): 84-86
[4]高昂, 乔龙威, 段程颖, 等. 多种酰基辅酶A脱氢酶缺乏症患儿ETFDH基因新突变研究. 中国当代儿科杂志, 2018, (7): 529-533
[5]Goh LL, Lee Y, Tan ES, et al. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. BMC Med Genomics, 2018, 11(1): 37
[6]Aguennouz M, Beccaria M, Purcaro G, et al. Analysis of lipid profile in lipid storage myopathy. J Chromatogr B Analyt Technol Biomed Life Sci, 2016, 1029-1030: 157-168
[7]Vieira P, Myllynen P, Perhomaa M, et al. Riboflavin-responsive multiple acyl-coa dehydrogenase deficiency associated with hepatoencephalomyopathy and white matter signal abnormalities on brain MRI. Neuropediatrics, 2017, 48(3): 194-198
[8]Prasad M, Hussain S. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. J Child Neurol, 2015, 30(1): 96-99
[9]Goodman SI, Axtell KM, Bindoff LA, et al. Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. Eur J Biochem, 1994, 219(1-2): 277-286
[10]Zhang J, Frerman FE, Kim JJ. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A, 2006, 103(44): 16212-16217
[11]Usselman RJ, Fielding AJ, Frerman FE, et al. 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). Biochemistry, 2008, 47(1): 92-100
[12]Swanson MA, Usselman RJ, Frerman FE, et al. The iron-sulfur cluster of electron transfer flavoprotein-ubiquinone oxidoreductase is the electron acceptor for electron transfer flavoprotein. Biochemistry, 2008, 47(34): 8894-8901
[13]Wang ZQ, Chen XJ, Murong SX, et al. 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. J Mol Med (Berl), 2011, 89(6): 569-576
[14]Cornelius N, Frerman FE, Corydon TJ, et al. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Hum Mol Genet, 2012, 21(15): 3435-3448
[15]Missaglia S, Tavian D, Moro L, et al. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Lipids Health Dis, 2018, 17(1): 254
[16]Whitaker CH, Felice KJ, Silvers D, et al. Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. Muscle Nerve, 2015, 52(2): 289-293
[17]Liu XY, Wang ZQ, Wang DN, et al. A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency. Chin Med J (Engl), 2016, 129(2): 142-146
[18]Xu J, Li D, Lv J, et al. ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency. Ann Neurol, 2018, 84(5): 659-673
[19]Er TK, Chen CC, Liu YY, et al. Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif. BMC Struct Biol, 2011, 11: 43
[20]Pollard KS, Hubisz MJ, Rosenbloom KR, et al. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res, 2010, 20(1): 110-121
[21]Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol, 2004, 5(2): 89-99
[22]Xiong HY, Alipanahi B, Lee LJ, et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science, 2015, 347(6218): 1254806
[23]Jian X, Boerwinkle E, Liu X. In silico prediction of splice-altering single nucleotide variants in the human genome. Nucleic Acids Res, 2014, 42(22): 13534-13544
[24]van 5der Westhuizen FH, Smuts I, Honey E, et al. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. J Neurol Sci, 2018, 384: 121-125
[25]Fu HX, Liu XY, Wang ZQ, et al. Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. Neurol Sci, 2016, 37(7): 1099-1105
[26]Xi J, Wen B, Lin J, et al. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis, 2014, 37(3): 399-404
[27]胡晓明, 李莉, 米荣, 等. ETFDH基因复合杂合突变致新生儿多种酰基辅酶A脱氢酶缺乏症家系一例并文献复习. 中国新生儿科杂志, 2018, 33(3): 205-209
[28]Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain, 2007, 130(Pt 8): 2037-2044 |
