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Human mitochondrial complex I in health and disease.

作者信息

Smeitink J, van den Heuvel L

机构信息

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen, The Netherlands.

出版信息

Am J Hum Genet. 1999 Jun;64(6):1505-10. doi: 10.1086/302432.

DOI:10.1086/302432
PMID:10330338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1377894/
Abstract
摘要

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本文引用的文献

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Subacute necrotizing encephalomyelopathy in an infant.一名婴儿的亚急性坏死性脑脊髓病
J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216-21. doi: 10.1136/jnnp.14.3.216.
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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.线粒体复合物I的突变型NDUFV1亚基导致脑白质营养不良和肌阵挛性癫痫。
Nat Genet. 1999 Mar;21(3):260-1. doi: 10.1038/6772.
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Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13.人类 NDUFB9 基因:基因组结构及一个可能与耳聋疾病相关的候选基因定位于 8q13 染色体。
Hum Hered. 1999 Mar;49(2):75-80. doi: 10.1159/000022848.
4
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.烟酰胺腺嘌呤二核苷酸(NADH):泛醌氧化还原酶八个核编码亚基的互补脱氧核糖核酸(cDNA):人类复合体I的cDNA特性分析已完成。
Biochem Biophys Res Commun. 1998 Dec 18;253(2):415-22. doi: 10.1006/bbrc.1998.9786.
5
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.编码参与细胞色素c氧化酶生物合成的一种因子的SURF1,在Leigh综合征中发生突变。
Nat Genet. 1998 Dec;20(4):337-43. doi: 10.1038/3804.
6
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.与细胞色素c氧化酶缺乏相关的Leigh病中SURF-1的突变。
Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150.
7
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.一名患有 Leigh 综合征的患者出现首例核编码的复合体 I 突变。
Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154.
8
NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit.牛心线粒体的NADH:泛醌氧化还原酶:一种新型17.2 kDa亚基的序列
FEBS Lett. 1998 Nov 6;438(3):301-5. doi: 10.1016/s0014-5793(98)01317-9.
9
Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex.线粒体外膜前体蛋白转位酶:一般导入孔复合体的分子剖析与组装
Mol Cell Biol. 1998 Nov;18(11):6515-24. doi: 10.1128/MCB.18.11.6515.
10
Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins [see comment].Tom40形成用于前体蛋白的线粒体输入孔的亲水性通道[见评论]。
Nature. 1998 Oct 1;395(6701):516-21. doi: 10.1038/26780.