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Neuroprotective modulation of the unfolded protein response in Marinesco-Sjögren syndrome: PERK signaling inhibition and beyond.

作者信息

Restelli Elena, Masone Antonio, Sallese Michele, Chiesa Roberto

机构信息

Department of Neuroscience, IRCCS - Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy.

Department of Medical, Oral and Biotechnological Sciences, Università "G. d'Annunzio"; CeSI-MeT, Center for Research on Ageing and Translational Medicine, Università "G. d'Annunzio", Chieti, Italy.

出版信息

Neural Regen Res. 2019 Jan;14(1):62-64. doi: 10.4103/1673-5374.243708.

DOI:10.4103/1673-5374.243708
PMID:30531072
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6263005/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d9b/6263005/02d86edf31b0/NRR-14-62-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d9b/6263005/73969140c669/NRR-14-62-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d9b/6263005/02d86edf31b0/NRR-14-62-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d9b/6263005/73969140c669/NRR-14-62-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d9b/6263005/02d86edf31b0/NRR-14-62-g002.jpg

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1
Neuroprotective modulation of the unfolded protein response in Marinesco-Sjögren syndrome: PERK signaling inhibition and beyond.在 Marinesco-Sjögren 综合征中对未折叠蛋白反应的神经保护调节：PERK 信号抑制及其他。
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2
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PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.PERK 抑制延缓 Marinesco-Sjögren 综合征小鼠模型的神经退行性变并改善运动功能。
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Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.Marinesco-Sjögren 综合征的异质性：两例报告。
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Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism.关于马里内斯科－舍格伦综合征与高促性腺激素性性腺功能减退的连锁研究。
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引用本文的文献

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Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice.曲唑酮、二苯甲酰甲烷和牛磺熊去氧胆酸不能预防马里内斯科-舍格伦综合征小鼠的运动功能障碍和神经退行性变。
PLoS One. 2025 Jan 13;20(1):e0317404. doi: 10.1371/journal.pone.0317404. eCollection 2025.
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Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss. Marinesco-Sjogren 综合征成纤维细胞的蛋白质组学分析表明 SIL1 缺失的促生存代谢适应。
Int J Mol Sci. 2021 Nov 18;22(22):12449. doi: 10.3390/ijms222212449.

本文引用的文献

1
PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells.PERK 抑制减弱了 SIL1 敲低诱导的 HeLa 细胞分泌途径异常和凋亡率增加。
Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3164-3180. doi: 10.1016/j.bbadis.2018.07.003. Epub 2018 Jul 7.
2
PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.PERK 抑制延缓 Marinesco-Sjögren 综合征小鼠模型的神经退行性变并改善运动功能。
Hum Mol Genet. 2018 Jul 15;27(14):2477-2489. doi: 10.1093/hmg/ddy152.
3
Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.
靶向 Marinesco-Sjögren 综合征中的增强型内质网应激反应。
J Neurol Sci. 2018 Feb 15;385:49-56. doi: 10.1016/j.jns.2017.12.010. Epub 2017 Dec 9.
4
Targeting PERK signaling with the small molecule GSK2606414 prevents neurodegeneration in a model of Parkinson's disease.小分子 GSK2606414 通过靶向 PERK 信号通路预防帕金森病模型中的神经退行性变。
Neurobiol Dis. 2018 Apr;112:136-148. doi: 10.1016/j.nbd.2018.01.004. Epub 2018 Jan 31.
5
Repurposed drugs targeting eIF2α-P-mediated translational repression prevent neurodegeneration in mice.靶向真核生物翻译起始因子2α磷酸化介导的翻译抑制的重新利用药物可预防小鼠神经退行性变。
Brain. 2017 Jun 1;140(6):1768-1783. doi: 10.1093/brain/awx074.
6
Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.Sil1 突变小鼠阐明了伴侣蛋白在神经紊乱中的作用。
J Neuromuscul Dis. 2016 May 27;3(2):169-181. doi: 10.3233/JND-160152.
7
PERK inhibition prevents tau-mediated neurodegeneration in a mouse model of frontotemporal dementia.在额颞叶痴呆小鼠模型中，蛋白激酶R样内质网激酶（PERK）抑制可预防tau蛋白介导的神经退行性变。
Acta Neuropathol. 2015 Nov;130(5):633-42. doi: 10.1007/s00401-015-1487-z. Epub 2015 Oct 8.
8
Partial restoration of protein synthesis rates by the small molecule ISRIB prevents neurodegeneration without pancreatic toxicity.小分子ISRIB部分恢复蛋白质合成速率可预防神经退行性变且无胰腺毒性。
Cell Death Dis. 2015 Mar 5;6(3):e1672. doi: 10.1038/cddis.2015.49.
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Oral treatment targeting the unfolded protein response prevents neurodegeneration and clinical disease in prion-infected mice.靶向未折叠蛋白反应的口服治疗可预防朊病毒感染小鼠的神经退行性变和临床疾病。
Sci Transl Med. 2013 Oct 9;5(206):206ra138. doi: 10.1126/scitranslmed.3006767.
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Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.未折叠蛋白反应的改变可修饰 Marinesco-Sjögren 综合征小鼠模型中的神经退行性变。
Hum Mol Genet. 2010 Jan 1;19(1):25-35. doi: 10.1093/hmg/ddp464.