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WWOX 相关神经发育障碍:模型与未来展望。

WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives.

机构信息

The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research-IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.

出版信息

Cells. 2021 Nov 9;10(11):3082. doi: 10.3390/cells10113082.

DOI:10.3390/cells10113082
PMID:34831305
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8623516/
Abstract

The WW domain-containing oxidoreductase () gene was originally discovered as a putative tumor suppressor spanning the common fragile site FRA16D, but as time has progressed the extent of its pleiotropic function has become apparent. At present, WWOX is a major source of interest in the context of neurological disorders, and more specifically developmental and epileptic encephalopathies (DEEs). This review article aims to introduce the many model systems used through the years to study its function and roles in neuropathies. Similarities and fundamental differences between rodent and human models are discussed. Finally, future perspectives and promising research avenues are suggested.

摘要

WW 结构域包含氧化还原酶()基因最初被发现是跨越常见脆性位点 FRA16D 的假定肿瘤抑制因子,但随着时间的推移,其多功能性的程度变得明显。目前,WWOX 是神经紊乱,特别是发育性和癫痫性脑病(DEE)领域的主要研究热点。本文综述旨在介绍多年来用于研究其在神经病变中的功能和作用的多种模型系统。讨论了啮齿动物和人类模型之间的相似性和根本差异。最后,提出了未来的展望和有前途的研究方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5bf/8623516/e3ef54fbb95b/cells-10-03082-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5bf/8623516/cde20b35caa7/cells-10-03082-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5bf/8623516/e3ef54fbb95b/cells-10-03082-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5bf/8623516/cde20b35caa7/cells-10-03082-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5bf/8623516/e3ef54fbb95b/cells-10-03082-g002.jpg

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本文引用的文献

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Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes.新生儿神经元 WWOX 基因治疗可挽救 Wwox 缺失表型。
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2
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Neurobiol Dis. 2021 Dec;160:105529. doi: 10.1016/j.nbd.2021.105529. Epub 2021 Oct 9.
3
Identification of neural oscillations and epileptiform changes in human brain organoids.
由 WWOX 基因 c.172+1G>C 变异纯合引起的发育性癫痫性脑病。
Mol Genet Genomic Med. 2024 Aug;12(8):e2500. doi: 10.1002/mgg3.2500.
4
Proteins and Transcriptional Dysregulation of the Brain Extracellular Matrix in Parkinson's Disease: A Systematic Review.帕金森病中大脑细胞外基质的蛋白质和转录失调:系统评价。
Int J Mol Sci. 2023 Apr 18;24(8):7435. doi: 10.3390/ijms24087435.
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Antineoplastic Nature of in Glioblastoma Is Mainly a Consequence of Reduced Cell Viability and Invasion.在胶质母细胞瘤中,[具体物质未给出]的抗肿瘤性质主要是细胞活力降低和侵袭减少的结果。
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