通过线粒体基因组测序在莱伯遗传性视神经病变患者中鉴定出新型MT-ND5基因突变。 - Suppr

Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.

作者信息

Seong Moon-Woo, Choi Jongmoon, Park Sung Sup, Kim Ji Yeon, Hwang Jeong-Min

机构信息

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea; Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.

出版信息

J Neurol Sci. 2017 Apr 15;375:301-303. doi: 10.1016/j.jns.2017.01.064. Epub 2017 Jan 24.

DOI:10.1016/j.jns.2017.01.064

PMID:28320155

Abstract

摘要

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Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.通过线粒体基因组测序在莱伯遗传性视神经病变患者中鉴定出新型MT-ND5基因突变。

J Neurol Sci. 2017 Apr 15;375:301-303. doi: 10.1016/j.jns.2017.01.064. Epub 2017 Jan 24.

[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].线粒体ND5基因T12338C突变可能与两个中国家系的Leber遗传性视神经病变相关

Yi Chuan. 2011 Apr;33(4):322-8. doi: 10.3724/sp.j.1005.2011.00322.

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.ND5基因在Leber遗传性视神经病变（LHON）中的作用：一种新的异质性LHON突变的特征分析

Ann Neurol. 2005 Nov;58(5):807-11. doi: 10.1002/ana.20669.

Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.Leber 遗传性视神经病变与六个汉族家系中线粒体 ND5 基因 T12338C 突变相关。

Ophthalmology. 2011 May;118(5):978-85. doi: 10.1016/j.ophtha.2010.09.003. Epub 2010 Dec 4.

Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy.Leber 遗传性视神经病变（LHON）相关的 ND5 12338T>C 突变改变了复合物 I 的组装和功能、细胞凋亡和线粒体自噬。

Hum Mol Genet. 2018 Jun 1;27(11):1999-2011. doi: 10.1093/hmg/ddy107.

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.外显子组测序确定，编码线粒体酪氨酸-tRNA合成酶的YARS2中的突变是与Leber遗传性视神经病变相关的线粒体DNA突变表型表现的核修饰因子。

Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.Leber 遗传性视神经病变的代谢组学特征揭示了内质网应激。

Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222.

Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.深度测序揭示了与 Leber 遗传性视神经病变相关的假异质性线粒体 DNA 变异体下的核线粒体序列。

Hum Mol Genet. 2012 Sep 1;21(17):3753-64. doi: 10.1093/hmg/dds182. Epub 2012 May 15.

[Leber's hereditary optic neuropathy].[莱伯遗传性视神经病变]

Rinsho Shinkeigaku. 2024 May 24;64(5):326-332. doi: 10.5692/clinicalneurol.cn-001924. Epub 2024 Apr 20.

Three Cases of Leber's Hereditary Optic Neuropathy with Rapid Increase in Visual Acuity After Gene Therapy.基因治疗后视力快速提高的 Leber 遗传性视神经病变三例。

Curr Gene Ther. 2019;19(2):134-138. doi: 10.2174/1566523219666190618094505.

引用本文的文献

Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy.韩国莱伯遗传性视神经病变患者的线粒体 DNA 突变。

Sci Rep. 2024 Mar 8;14(1):5702. doi: 10.1038/s41598-024-56215-x.

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the gene.扩大该基因中线粒体突变A13084T的临床谱。

Neurol Genet. 2020 Sep 15;6(5):e511. doi: 10.1212/NXG.0000000000000511. eCollection 2020 Oct.

Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.使用多基因检测板对Leber遗传性视神经病变进行突变分析。

Biomed Rep. 2018 Jan;8(1):51-58. doi: 10.3892/br.2017.1014. Epub 2017 Nov 8.

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Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing.

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