Isolated homozygous R217X mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.
作者信息
Nolan Matthew, Barbagallo Paola, Turner Martin R, Keogh Michael John, Chinnery Patrick F, Talbot Kevin, Ansorge Olaf
机构信息
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, Oxfordshire, UK.
Biosciences Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
出版信息
J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):1022-1024. doi: 10.1136/jnnp-2020-325803. Epub 2021 Mar 16.
Abstract
摘要
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Isolated homozygous R217X mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.孤立的纯合R217X突变导致功能性C端视紫质神经元结构域缺失及相关少突胶质细胞瘤为主型肌萎缩侧索硬化-TDP。
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本文引用的文献
1
Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.家族性肌萎缩侧索硬化症伴视神经萎缩突变病例中的多种蛋白病。
J Neuropathol Exp Neurol. 2018 Feb 1;77(2):128-138. doi: 10.1093/jnen/nlx109.
2
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.通过英国医学研究理事会脑库网络资源可获取的1511个人类大脑的基因汇编。
Genome Res. 2017 Jan;27(1):165-173. doi: 10.1101/gr.210609.116. Epub 2016 Dec 21.
3
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.全基因组测序揭示TBK1和OPTN突变在无运动神经元病的额颞叶痴呆中的重要作用。
Acta Neuropathol. 2015 Jul;130(1):77-92. doi: 10.1007/s00401-015-1436-x. Epub 2015 May 6.
4
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.肌萎缩侧索硬化症的外显子组测序确定风险基因和通路。
Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.
5
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.肌萎缩侧索硬化症的寡基因基础证据。
Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29.
6
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.TDP-43 阳性 ALS 和 FTLD-TDP 病例中少数存在 OPTN 包涵体，而在其他神经退行性疾病中很少观察到。
Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1.
7
Mutations of optineurin in amyotrophic lateral sclerosis.视神经萎缩症相关蛋白基因突变与肌萎缩侧索硬化症。
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