[1] CarillaLatorre S, Annesley SJ, MuñozBraceras S, et al.Ndufaf5 deficiency in the dictyostelium model:new roles in autophagy and development[J].Mol Biol Cell,2013,24(10):1519-1528. [2] Simon MT, Eftekharian SS, Stover AE, et al.Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes[J].Mol Genet Metab,2019,126(1):53-63. [3] Sugiana C,Pagliarini DJ, Mckenzie M, et al.Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease[J].Am J Hum Genet,2008,83(4):468-478. [4] Gerards M, Siuiter W,van den Bosch BJ, et al.Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome[J].J Med Genet,2010,47(8):507-512. [5] Tong W,Wang Y,Lu Y,et al.Whole-exomesequencing helps the diagnosis and treatment in children with neurodevelopmental delay accompanied unexplained dyspnea[J].Sci Rep,2018,8(1):5214. [6] Kniffin CL.NADH Dehydrogenase (Ubiquinone) complexⅠ,assembly factor 5:NDUFAF5[Z].https://omim.org/phenotypicseries/ps102300,2018 Dec. [7] Farwell KD,Shahmirzadi L,El-Khechen D.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis:results from 500 unselected families with undiagnosed genetic conditions[J].Genet Med,2015 17(7):578-586. [8] Radelfahr F, Klopstock T.Mitochondrial diseases[J].Nervenarzt,2019,90(2):121-130. [9] Davis RL,Liang C,Sue CM.Mitochondrial diseases[J].Handb Cin Neurol,2018, 147:125-141. [10] Gorman GS,Schaefer AM,Ng Y,et al.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease[J].Ann Neurol,2015,77(5):753-759. [11] 吕宝北,赵鹏翔,张鑫,等.线粒体呼吸链复合物Ⅰ结构和功能的研究进展[J].现代生物医学进展,2018,18(2):356-359. [12] Rhein VF, Carroll J,Shujing DING,et al.NDUFAF5 hydroxylates NDUFS7 at an early stage in the assembly of human complex I[J].J Biol Chem, 2016,291(28):14851-14860. [13] 林洁.线粒体病的鸡尾酒疗法[EB/OL].[2015-07-19].http://mip.haodf.com/zhuangjiaguandian/3086345166. htm. [14] Gueven N.Idebenone for Leber's hereditary optic neuropathy [J].Drugs Today (Barc),2016,52(3):173181. [15] 王小凤.丁苯酞联合鸡尾酒疗法治疗线粒体病的疗效观察[D].保定:河北大学,2018. [16] Muraresku CC,McCormick EM,Falk MJ.Mitochondrialdisease:a dvances in clinical diagnosis, management, therapeutic development, and preventative strategies[J].Curr Genet Med Rep,2018,6(2):62-72.
|