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

Suppr

超能文献

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

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.

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

Ann Neurol. 1991 Nov;30(5):701-8. doi: 10.1002/ana.410300511.

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.

[A Mitochondrial mutation defect is identified in Leber's hereditary optic neuropathy].

Lakartidningen. 1989 Mar 29;86(13):1161.

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.

Ann Neurol. 1998 Aug;44(2):187-93. doi: 10.1002/ana.410440208.

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.

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy.

J Biol Chem. 1996 May 31;271(22):13155-61. doi: 10.1074/jbc.271.22.13155.

[Leber's optic neuropathy. Future prospects].

Bull Soc Ophtalmol Fr. 1989 Nov;89(11):1235-7.

Rhodanese isozymes in three subjects with Leber's optic neuropathy.

J Med Genet. 1989 Feb;26(2):113-5. doi: 10.1136/jmg.26.2.113.

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Am J Hum Genet. 1990 Oct;47(4):629-34.

引用本文的文献

Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.

Life (Basel). 2022 Nov 20;12(11):1934. doi: 10.3390/life12111934.

Next-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in mice.

Mol Vis. 2013 Jul 14;19:1482-91. Print 2013.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26.

The neurodegenerative mitochondriopathies.

J Alzheimers Dis. 2009;17(4):737-51. doi: 10.3233/JAD-2009-1095.

Inherited mitochondrial optic neuropathies.

J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10.

Complex I deficiency in Parkinson's disease frontal cortex.

Brain Res. 2008 Jan 16;1189:215-8. doi: 10.1016/j.brainres.2007.10.061. Epub 2007 Nov 1.

Leber hereditary optic neuropathy.

J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162.

Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy.

J Inherit Metab Dis. 2000 Nov;23(7):730-44. doi: 10.1023/a:1005687031531.

Mitochondrial dysfunction in idiopathic Parkinson disease.

Am J Hum Genet. 1998 Apr;62(4):758-62. doi: 10.1086/301812.

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

J Bioenerg Biomembr. 1997 Apr;29(2):165-73. doi: 10.1023/a:1022690030664.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验