The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.
作者信息
Cock H R, Cooper J M, Schapira A H
出版信息
Am J Hum Genet. 1995 Dec;57(6):1501-2.
Abstract
摘要
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The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.莱伯遗传性视神经病变中14484 ND6线粒体DNA突变不影响成纤维细胞复合体I活性。
Am J Hum Genet. 1995 Dec;57(6):1501-2.
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The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.与Leber遗传性视神经病变相关的线粒体DNA突变ND6*14,484C，会导致呼吸链复合体I缺乏。
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mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia.与脊椎骨骺发育不良相关的Leber遗传性视神经病变的线粒体DNA分析
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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.线粒体ND6基因是导致Leber遗传性视神经病变的突变热点。
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Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.Leber遗传性视神经病变中线粒体DNA细胞间异质性的单细胞分析
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Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.莱伯遗传性视神经病变中的线粒体ND-I突变
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Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.莱伯遗传性视神经病变：关于线粒体DNA新致病性变异的报告
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Mitochondrial Transfer of the Mutant Human Gene Causes Visual Loss and Optic Neuropathy.突变人类基因的线粒体转移导致视力丧失和视神经病变。
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Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.线粒体视神经病变——疾病机制与治疗策略。
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Generation of reactive oxygen species by mitochondrial complex I: implications in neurodegeneration.线粒体复合体I产生活性氧：对神经退行性变的影响
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Leber hereditary optic neuropathy.莱伯遗传性视神经病变
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Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?莱伯遗传性视神经病变：线粒体DNA突变如何导致视神经变性？
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本文引用的文献
1
Platelet mitochondrial function in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中的血小板线粒体功能
J Neurol Sci. 1994 Mar;122(1):80-3. doi: 10.1016/0022-510x(94)90055-8.
2
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.与Leber遗传性视神经病变相关的线粒体编码ND4亚基的功能改变。
FEBS Lett. 1994 Oct 3;352(3):375-9. doi: 10.1016/0014-5793(94)00971-6.
3
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.莱伯遗传性视神经病变：不同线粒体DNA突变的临床相关性
J Med Genet. 1995 Feb;32(2):81-7. doi: 10.1136/jmg.32.2.81.
4
A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.莱伯氏病的一种新表现形式以及对其异常遗传模式的致病因素的一种新解释。
Brain. 1970;93(1):121-32. doi: 10.1093/brain/93.1.121.
5
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
N Engl J Med. 1989 May 18;320(20):1331-3. doi: 10.1056/NEJM198905183202007.
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Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).莱伯遗传性视神经病变（LHON）的ND1/3460和ND4/11778突变中NADH：泛醌还原酶的电子转移特性
FEBS Lett. 1991 Nov 4;292(1-2):289-92. doi: 10.1016/0014-5793(91)80886-8.
8
Leber's hereditary optic neuropathy and complex I deficiency in muscle.莱伯遗传性视神经病变与肌肉中的复合体I缺乏症。
Ann Neurol. 1991 Nov;30(5):701-8. doi: 10.1002/ana.410300511.
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