肌张力障碍的新兴分子遗传学家族:内质体-自动吞噬体-溶酶体和综合应激反应途径。

IF 7.4 1区 医学 Q1 CLINICAL NEUROLOGY
Nicole Calakos, Michael Zech
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引用次数: 0

摘要

遗传技术和疾病建模的进步大大加快了引入和验证疾病分子遗传因素的步伐。在肌张力障碍中,多种不同形式的疾病越来越趋向于核心生物过程。在此,我们将讨论其中的两个过程,即内质体-自噬体-溶酶体途径和综合应激反应,以突出该领域的最新进展。以这两种病理机制为例,我们将进一步讨论肌张力障碍的分子遗传分组为改变肌张力障碍治疗带来的机遇。© 2024 The Author(s).运动障碍》由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.

Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular-genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes. Here, we discuss two of these, the endosome-autophagosome-lysosome pathway and the integrated stress response, to highlight recent advances in the field. Using these two pathomechanisms as examples, we further discuss the opportunities that molecular-genetic grouping of dystonias present to transform dystonia care. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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来源期刊
Movement Disorders
Movement Disorders 医学-临床神经学
CiteScore
13.30
自引率
8.10%
发文量
371
审稿时长
12 months
期刊介绍: Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.
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