Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

IF 2.1 4区 生物学 Q2 BIOLOGY
Journal of Biosciences Pub Date : 2025-01-01
Yi Li, Shangbang Gao
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引用次数: 0

Abstract

The Johanson-Blizzard syndrome (JBS) is a complex autosomal recessive disorder that manifests through a spectrum of symptoms, with deficiencies in the ubiquitin-protein ligase E3 component N-recognin 1 (UBR-1) at its genetic core. Despite its clinical significance, the molecular intricacies of UBR-1's role in JBS remain largely elusive, presenting a formidable challenge in devising targeted treatments. The nematode Caenorhabditis elegans, with its genetic tractability and conservation of fundamental biological mechanisms, emerges as an invaluable model for unravelling the molecular underpinnings of JBS. This review integrates the latest discoveries from C. elegans studies, shedding light on UBR-1's multiple functions: its regulatory impact on cellular pathways and, particularly, its crucial involvement in glutamate metabolism. By assessing the contributions of these studies to our understanding of JBS, this review highlights the potential significance of glutamate metabolic dysfunction in JBS pathogenesis.

johnson - blizzard综合征中谷氨酸代谢紊乱:来自秀丽隐杆线虫ubr-1模型的见解。
约翰逊-暴雪综合征(JBS)是一种复杂的常染色体隐性遗传病,表现为一系列症状,其遗传核心是泛素蛋白连接酶E3成分n-识别蛋白1 (UBR-1)的缺乏。尽管具有临床意义,但UBR-1在JBS中作用的分子复杂性在很大程度上仍然难以捉摸,这给设计靶向治疗带来了巨大挑战。秀丽隐杆线虫具有遗传可追踪性和基本生物学机制的保守性,成为揭示JBS分子基础的宝贵模型。这篇综述整合了秀丽隐杆线虫研究的最新发现,揭示了UBR-1的多种功能:它对细胞通路的调节作用,特别是它对谷氨酸代谢的重要参与。通过评估这些研究对我们了解JBS的贡献,本综述强调了谷氨酸代谢功能障碍在JBS发病机制中的潜在意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Biosciences
Journal of Biosciences 生物-生物学
CiteScore
5.80
自引率
0.00%
发文量
83
审稿时长
3 months
期刊介绍: The Journal of Biosciences is a quarterly journal published by the Indian Academy of Sciences, Bangalore. It covers all areas of Biology and is the premier journal in the country within its scope. It is indexed in Current Contents and other standard Biological and Medical databases. The Journal of Biosciences began in 1934 as the Proceedings of the Indian Academy of Sciences (Section B). This continued until 1978 when it was split into three parts : Proceedings-Animal Sciences, Proceedings-Plant Sciences and Proceedings-Experimental Biology. Proceedings-Experimental Biology was renamed Journal of Biosciences in 1979; and in 1991, Proceedings-Animal Sciences and Proceedings-Plant Sciences merged with it.
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