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Novel UCHL1 mutations reveal new insights into ubiquitin processing.

作者信息

Rydning Siri L, Backe Paul H, Sousa Mirta M L, Iqbal Zafar, Øye Ane-Marte, Sheng Ying, Yang Mingyi, Lin Xiaolin, Slupphaug Geir, Nordenmark Tonje H, Vigeland Magnus D, Bjørås Magnar, Tallaksen Chantal M, Selmer Kaja K

机构信息

Department of Neurology, Oslo University Hospital, Norway.

Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Norway.

出版信息

Hum Mol Genet. 2017 Mar 15;26(6):1217-1218. doi: 10.1093/hmg/ddx072.

DOI:10.1093/hmg/ddx072
PMID:28334853
Abstract
摘要

相似文献

1
Novel UCHL1 mutations reveal new insights into ubiquitin processing.新型UCHL1突变揭示了泛素加工的新见解。
Hum Mol Genet. 2017 Mar 15;26(6):1217-1218. doi: 10.1093/hmg/ddx072.
2
Role of ubiquitin C-terminal hydrolase-L1 in antipolyspermy defense of mammalian oocytes.泛素 C 末端水解酶-L1 在哺乳动物卵母细胞抗多精入卵中的作用。
Biol Reprod. 2010 Jun;82(6):1151-61. doi: 10.1095/biolreprod.109.081547. Epub 2010 Feb 17.
3
Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.UCHL1 水平升高是脊髓性肌萎缩症中泛素稳态失调的代偿反应，并不代表可行的治疗靶点。
Neuropathol Appl Neurobiol. 2014 Dec;40(7):873-87. doi: 10.1111/nan.12168.
4
Ubiquitin C-terminal hydrolase L1 deletion ameliorates glomerular injury in mice with ACTN4-associated focal segmental glomerulosclerosis.泛素羧基末端水解酶L1缺失改善了与ACTN4相关的局灶节段性肾小球硬化小鼠的肾小球损伤。
Biochim Biophys Acta. 2014 Jul;1842(7):1028-40. doi: 10.1016/j.bbadis.2014.03.009. Epub 2014 Mar 22.
5
[The role of hypermethylation in promoter region of ubiquitin carboxyl-terminal hydrolase L1 in human esophageal cancer].[泛素羧基末端水解酶L1启动子区域高甲基化在人食管癌中的作用]
Zhonghua Nei Ke Za Zhi. 2012 May;51(5):390-3.
6
Effects of ubiquitin C-terminal hydrolase L1 deficiency on mouse ova.泛素 C 端水解酶 L1 缺乏对小鼠卵母细胞的影响。
Reproduction. 2012 Mar;143(3):271-9. doi: 10.1530/REP-11-0128. Epub 2012 Jan 5.
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Biomarkers of brain injury in foals with hypoxic-ischemic encephalopathy.缺氧缺血性脑病驹脑损伤的生物标志物。
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New insights into Parkinson's disease.帕金森病的新见解
J Neurol. 2003 Oct;250 Suppl 3:III15-24. doi: 10.1007/s00415-003-1304-9.
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Downregulation of miR-181b in mouse brain following ischemic stroke induces neuroprotection against ischemic injury through targeting heat shock protein A5 and ubiquitin carboxyl-terminal hydrolase isozyme L1.脑缺血后小鼠大脑中 miR-181b 的下调通过靶向热休克蛋白 A5 和泛素羧基末端水解酶同工酶 L1 诱导对缺血性损伤的神经保护作用。
J Neurosci Res. 2013 Oct;91(10):1349-62. doi: 10.1002/jnr.23255. Epub 2013 Jul 30.
10
[Differential expression of ubiquitin C-terminal hydrolase L-1 in the rat testis following exposure to di-n-butyl phthalate in utero].
Zhonghua Nan Ke Xue. 2008 Aug;14(8):680-4.

引用本文的文献

1
Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.与显性 UCHL1 突变相关的表型变异性：约三个伴有视神经萎缩和共济失调的家系。
J Neurol. 2024 Sep;271(9):6038-6044. doi: 10.1007/s00415-024-12574-z. Epub 2024 Jul 20.
2
Abolishing UCHL1's hydrolase activity exacerbates ischemia-induced axonal injury and functional deficits in mice.消除 UCHL1 的水解酶活性会加剧小鼠缺血诱导的轴突损伤和功能缺陷。
J Cereb Blood Flow Metab. 2024 Nov;44(11):1349-1361. doi: 10.1177/0271678X241258809. Epub 2024 Jun 4.
3
Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.
UCHL1 在神经退行性疾病和脑损伤发病机制中的作用。
Ageing Res Rev. 2023 Apr;86:101856. doi: 10.1016/j.arr.2023.101856. Epub 2023 Jan 19.
4
Upper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons.上运动神经元是基因治疗的靶点，而泛素羧基末端水解酶L1对于改善患病上运动神经元的细胞完整性是必要且充分的。
Gene Ther. 2022 Apr;29(3-4):178-192. doi: 10.1038/s41434-021-00303-4. Epub 2021 Dec 2.
5
Loss of UCHL1 rescues the defects related to Parkinson's disease by suppressing glycolysis.UCHL1 的缺失通过抑制糖酵解挽救与帕金森病相关的缺陷。
Sci Adv. 2021 Jul 9;7(28). doi: 10.1126/sciadv.abg4574. Print 2021 Jul.
6
Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.生成用于研究上运动神经元的小鼠模型的复杂性：让我们将焦点从小鼠转移到神经元上。
Int J Mol Sci. 2019 Aug 7;20(16):3848. doi: 10.3390/ijms20163848.
7
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.常染色体隐性小脑共济失调的分类：小脑共济失调研究协会工作组的共识声明。
Cerebellum. 2019 Dec;18(6):1098-1125. doi: 10.1007/s12311-019-01052-2.