Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.
作者信息
Hirano Michio
机构信息
Columbia University Medical Centre New York, NY USA E-mail:
出版信息
Brain. 2014 Feb;137(Pt 2):308-9. doi: 10.1093/brain/awu005.
Abstract
摘要
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Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.关于Leber遗传性视神经病变的探讨：线粒体质量的影响
Brain. 2014 Feb;137(Pt 2):308-9. doi: 10.1093/brain/awu005.
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Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.回复：线粒体DNA拷贝数可区分患有Leber遗传性视神经病变的个体与未患病的突变携带者。
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Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24.
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In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.通过激活 AMPK/PGC-1α 轴纠正 COX 缺陷
Cell Metab. 2011 Jul 6;14(1):80-90. doi: 10.1016/j.cmet.2011.04.011.
3
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.雌激素改善 Leber 遗传性视神经病变中的线粒体功能障碍。
Brain. 2011 Jan;134(Pt 1):220-34. doi: 10.1093/brain/awq276. Epub 2010 Oct 13.
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Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography.Leber 遗传性视神经病变的自然史：光学相干断层扫描对视网膜神经纤维层的纵向分析。
Ophthalmology. 2010 Mar;117(3):623-7. doi: 10.1016/j.ophtha.2009.07.026. Epub 2010 Jan 19.
5
Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype.激活PPAR/PGC-1α信号通路可预防生物能量缺乏，并有效改善线粒体肌病表型。
Cell Metab. 2008 Sep;8(3):249-56. doi: 10.1016/j.cmet.2008.07.006.
6
Mitochondrial disorders in the nervous system.神经系统中的线粒体疾病。
Annu Rev Neurosci. 2008;31:91-123. doi: 10.1146/annurev.neuro.30.051606.094302.
7
Hereditary optic neuropathies: from the mitochondria to the optic nerve.遗传性视神经病变：从线粒体到视神经
Am J Ophthalmol. 2005 Sep;140(3):517-23. doi: 10.1016/j.ajo.2005.03.017.
8
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.
9
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
10
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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