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Shared mechanisms and pathological phenotypes underlying aminoacyl-tRNA synthetase-related neuropathies.

作者信息

Rhymes Elena R, Sleigh James N

机构信息

Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK (Rhymes ER, Sleigh JN).

UK Dementia Research Institute, University College London, London, UK (Sleigh JN).

出版信息

Neural Regen Res. 2026 Jan 1;21(1):312-313. doi: 10.4103/NRR.NRR-D-24-01080. Epub 2024 Dec 7.

DOI:10.4103/NRR.NRR-D-24-01080
PMID:39851138
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12094558/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d4/12094558/3a8913a92e81/NRR-21-312-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d4/12094558/3a8913a92e81/NRR-21-312-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/90d4/12094558/3a8913a92e81/NRR-21-312-g001.jpg

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本文引用的文献

1
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.在 DI-CMTC 周围神经病的小鼠模型中,肌肉中 BDNF 的增加可挽救受损的轴突运输。
Neurobiol Dis. 2024 Jun 1;195:106501. doi: 10.1016/j.nbd.2024.106501. Epub 2024 Apr 6.
2
Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice.增强外周 BDNF 可挽救 CMT2D 小鼠体内受损的轴突运输。
JCI Insight. 2023 May 8;8(9):e157191. doi: 10.1172/jci.insight.157191.
3
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
酪氨酰-tRNA 合成酶在肌动蛋白成束中具有非典型功能。
Nat Commun. 2023 Mar 8;14(1):999. doi: 10.1038/s41467-023-35908-3.
4
tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase.tRNA 过表达可挽救 tRNA 合成酶突变引起的周围神经病。
Science. 2021 Sep 3;373(6559):1161-1166. doi: 10.1126/science.abb3356. Epub 2021 Sep 1.
5
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.整合应激反应导致 tRNA 合成酶相关的周围神经病。
Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1.
6
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.CMT2N 致病氨酰化结构域突变体能使 Nrp1 与 AlaRS 相互作用。
Proc Natl Acad Sci U S A. 2021 Mar 30;118(13). doi: 10.1073/pnas.2012898118.
7
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.核定位的与腓骨肌萎缩症相关的氨酰-tRNA 合成酶引起的转录失调。
Nat Commun. 2019 Nov 6;10(1):5045. doi: 10.1038/s41467-019-12909-9.
8
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.CMT 疾病的严重程度与组氨酰-tRNA 合成酶突变诱导的开放构象相关,而与氨酰化丧失无关,在患者细胞中。
Proc Natl Acad Sci U S A. 2019 Sep 24;116(39):19440-19448. doi: 10.1073/pnas.1908288116. Epub 2019 Sep 9.
9
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.隐性和显性人类疾病中氨酰-tRNA合成酶突变的新机制
Hum Mol Genet. 2017 Oct 1;26(R2):R114-R127. doi: 10.1093/hmg/ddx231.
10
Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.能够导致蛋白质错误相互作用的替代性稳定构象将氨酰tRNA合成酶与周围神经病变联系起来。
Nucleic Acids Res. 2017 Jul 27;45(13):8091-8104. doi: 10.1093/nar/gkx455.