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A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

作者信息

Parker W D, Oley C A, Parks J K

机构信息

Department of Neurology, University of Colorado School of Medicine, Denver.

出版信息

N Engl J Med. 1989 May 18;320(20):1331-3. doi: 10.1056/NEJM198905183202007.

DOI:10.1056/NEJM198905183202007
PMID:2497346
Abstract
摘要

相似文献

1
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.
2
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.
3
Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.
J Inherit Metab Dis. 1988;11 Suppl 2:193-7. doi: 10.1007/BF01804233.
4
[A Mitochondrial mutation defect is identified in Leber's hereditary optic neuropathy].
Lakartidningen. 1989 Mar 29;86(13):1161.
5
The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.核背景对3460型Leber遗传性视神经病变生化表达的影响。
Ann Neurol. 1998 Aug;44(2):187-93. doi: 10.1002/ana.410440208.
6
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. doi: 10.1016/0006-291x(91)91567-v.
7
Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy.携带与Leber遗传性视神经病变相关的11778突变的线粒体转移细胞系中的呼吸和生长缺陷。
J Biol Chem. 1996 May 31;271(22):13155-61. doi: 10.1074/jbc.271.22.13155.
8
[Leber's optic neuropathy. Future prospects].[利伯视神经病变。未来展望]
Bull Soc Ophtalmol Fr. 1989 Nov;89(11):1235-7.
9
Rhodanese isozymes in three subjects with Leber's optic neuropathy.三名患有Leber视神经病变患者体内的硫氰酸酶同工酶
J Med Genet. 1989 Feb;26(2):113-5. doi: 10.1136/jmg.26.2.113.
10
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.一例不涉及线粒体ND4基因突变的Leber遗传性视神经病变。
Am J Hum Genet. 1990 Oct;47(4):629-34.

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Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.在用于复合体I的细菌模型系统中对线粒体ND1的人类临床突变进行分析。
Life (Basel). 2022 Nov 20;12(11):1934. doi: 10.3390/life12111934.
2
Next-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in mice.小鼠中线粒体靶向性人ND4腺相关病毒转导的下一代测序
Mol Vis. 2013 Jul 14;19:1482-91. Print 2013.
3
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。
Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26.
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The neurodegenerative mitochondriopathies.神经退行性线粒体病。
J Alzheimers Dis. 2009;17(4):737-51. doi: 10.3233/JAD-2009-1095.
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Inherited mitochondrial optic neuropathies.遗传性线粒体视神经病变
J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10.
6
Complex I deficiency in Parkinson's disease frontal cortex.帕金森病额叶皮质中的复合体I缺陷
Brain Res. 2008 Jan 16;1189:215-8. doi: 10.1016/j.brainres.2007.10.061. Epub 2007 Nov 1.
7
Leber hereditary optic neuropathy.莱伯遗传性视神经病变
J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.
8
Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy.对Leber遗传性视神经病变患者成纤维细胞中NADH-四唑还原酶缺乏症的显微光度分析。
J Inherit Metab Dis. 2000 Nov;23(7):730-44. doi: 10.1023/a:1005687031531.
9
Mitochondrial dysfunction in idiopathic Parkinson disease.特发性帕金森病中的线粒体功能障碍
Am J Hum Genet. 1998 Apr;62(4):758-62. doi: 10.1086/301812.
10
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?
J Bioenerg Biomembr. 1997 Apr;29(2):165-73. doi: 10.1023/a:1022690030664.