意大利对遗传性视神经病变中最常见基因缺陷及全球排名前十情况的重新评估。 - Suppr

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

作者信息

Fiorini Claudio, Ormanbekova Danara, Palombo Flavia, Carbonelli Michele, Amore Giulia, Romagnoli Martina, d'Agati Pietro, Valentino Maria Lucia, Barboni Piero, Cascavilla Maria Lucia, De Negri Annamaria, Sadun Federico, Carta Arturo, Testa Francesco, Petruzzella Vittoria, Guerriero Silvana, Bianchi Marzoli Stefania, Carelli Valerio, La Morgia Chiara, Caporali Leonardo

机构信息

IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.

Department of Biomedical and Neuromotor Sciences, University of Bologna, 40139 Bologna, Italy.

出版信息

Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080.

DOI:10.1093/brain/awad080

PMID:36913248

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10473554/

Abstract

摘要

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The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.意大利对遗传性视神经病变中最常见基因缺陷及全球排名前十情况的重新评估。

Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080.

[Hereditary optic neuropathies].[遗传性视神经病变]

Rev Neurol (Paris). 2012 Oct;168(10):706-9. doi: 10.1016/j.neurol.2012.08.005. Epub 2012 Sep 16.

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.2186 名先证者中遗传性视神经病变最常涉及的前 10 个基因。

Brain. 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395.

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.了解遗传性视神经病变的分子基础和发病机制：提高诊断和治疗水平。

Lancet Neurol. 2023 Feb;22(2):172-188. doi: 10.1016/S1474-4422(22)00174-0. Epub 2022 Sep 22.

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?线粒体视神经病变：两个基因组如何导致同一细胞类型死亡？

Biosci Rep. 2007 Jun;27(1-3):173-84. doi: 10.1007/s10540-007-9045-0.

[Genetic basis of hereditary optic atrophies].[遗传性视神经萎缩的遗传基础]

Klin Oczna. 2007;109(10-12):470-4.

[Autosomal recessive optic neuropathies: genetic variants, clinical manifestations].[常染色体隐性遗传性视神经病变：基因变异、临床表现]

Vestn Oftalmol. 2022;138(6):116-122. doi: 10.17116/oftalma2022138061116.

Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.用于遗传性视神经病变的诱导多能干细胞——疾病建模与治疗开发

J Neuroophthalmol. 2022 Mar 1;42(1):35-44. doi: 10.1097/WNO.0000000000001375. Epub 2021 Sep 30.

Hereditary optic neuropathies.遗传性视神经病变

Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.

[Vulnerability of retinal ganglion cells to mitochondrial defects].[视网膜神经节细胞对线粒体缺陷的易损性]

Arch Soc Esp Oftalmol. 2012 Mar;87(3):69-71. doi: 10.1016/j.oftal.2012.01.008.

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Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients.机器学习应用于显性视神经萎缩患者的视野分析

Transl Vis Sci Technol. 2025 Jun 2;14(6):20. doi: 10.1167/tvst.14.6.20.

Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.编码一种保守的线粒体伴侣蛋白和抗凋亡蛋白的CRYAB发生突变会导致遗传性视神经萎缩。

JCI Insight. 2024 Nov 19;10(1):e182209. doi: 10.1172/jci.insight.182209.

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.826个家族中视神经萎缩的临床和遗传图谱：来自50个核基因的见解

Brain. 2025 May 13;148(5):1604-1620. doi: 10.1093/brain/awae324.

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.

本文引用的文献

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.2186 名先证者中遗传性视神经病变最常涉及的前 10 个基因。

Brain. 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395.

Dominant mutations are a frequent cause of isolated optic atrophy.显性突变是孤立性视神经萎缩的常见病因。

Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021.

NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.NDUFS3 缺失可促进复合物 I 的成熟，并揭示 TMEM126A/OPA7 作为结合 ND4 模块中间产物的组装因子。

Cell Rep. 2021 Apr 20;35(3):109002. doi: 10.1016/j.celrep.2021.109002.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.复合物 I 修复缺陷导致常染色体隐性遗传视神经病变。

J Clin Invest. 2021 Mar 15;131(6). doi: 10.1172/JCI138267.

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.线粒体相关的AAA蛋白酶AFG3L2和SPG7的突变会导致孤立性显性视神经萎缩。

Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.ATPase 结构域 AFG3L2 突变改变 OPA1 加工并导致视神经病变。

Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.SSBP1 突变导致 mtDNA 耗竭，是一种复杂的视神经萎缩疾病的基础。

J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.独特组合的个体非致病性错义线粒体 DNA 变异导致低外显率的莱伯遗传性视神经病变。

PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.与儿童和青年期 RTN4IP1（OPA10）基因突变相关的神经表型。

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.迟发性视神经萎缩、共济失调及与复合物II基因突变相关的肌病。

Ann Neurol. 2000 Sep;48(3):330-5.

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The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.

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