Physiological and Pathogenesis Significance of Chorein in Health and Disease.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-04-30

S Alkahtani, A A Alkahtane, S Alarifi

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引用次数: 0

Abstract

This comprehensive review explores the physiological and pathophysiological significance of VPS13A, a protein encoded by the VPS13A gene. The VPS13A gene is associated with Chorea-acanthocytosis (ChAc), a rare hereditary neurodegenerative disorder. The review covers essential aspects, beginning with the genetics of VPS13A, highlighting its role in the pathogenesis of ChAc, and addressing the spectrum of genetic variants involved. It delves into the structure and function of the VPS13A protein, emphasizing its presence in various tissues and its potential involvement in protein trafficking and lipid homeostasis. Molecular functions of VPS13A in the brain tissue and other cell types or tissues with respect to their role in cytoskeletal regulation and autophagy are explored. Finally, it explores the intriguing link between VPS13A mutations, lipid imbalances, and neurodegeneration, shedding light on future research directions. Overall, this review serves as a comprehensive resource for understanding the pivotal role of VPS13A in health and disease, particularly in the context of ChAc. Key words: Chorein , Tumor, Actin, Microfilament, Gene expression, Chorea-acanthocytosis.

本刊更多论文

Chorein 在健康和疾病中的生理和发病机制意义。

本综述探讨了 VPS13A 基因编码的蛋白质 VPS13A 的生理和病理生理学意义。VPS13A 基因与一种罕见的遗传性神经退行性疾病 Chorea-acanthocytosis (ChAc) 有关。该综述涵盖了基本方面，从 VPS13A 基因的遗传学入手，强调了它在 ChAc 发病机制中的作用，并探讨了相关基因变异的范围。综述深入探讨了 VPS13A 蛋白的结构和功能，强调了它在各种组织中的存在，以及它可能参与蛋白质转运和脂质平衡的情况。还探讨了 VPS13A 在脑组织和其他细胞类型或组织中的分子功能，以及它们在细胞骨架调节和自噬中的作用。最后，它探讨了 VPS13A 基因突变、脂质失衡和神经退行性病变之间的有趣联系，并阐明了未来的研究方向。总之，这篇综述是了解 VPS13A 在健康和疾病（尤其是 ChAc）中的关键作用的全面资料。关键词胆囊素肿瘤肌动蛋白微丝基因表达胆囊-棘细胞增多症

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

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.