卵黄蛋白:从序列到生物学作用。

IF 4.9 Q1 BIOPHYSICS
Biophysical reviews Pub Date : 2025-04-03 eCollection Date: 2025-04-01 DOI:10.1007/s12551-025-01311-z
María Florencia Pignataro, Martín Ezequiel Noguera, María Georgina Herrera, Ernesto Andrés Roman, Javier Santos
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引用次数: 0

摘要

Frataxin是一种与罕见疾病弗里德赖希共济失调有关的小蛋白质。在过去的几年里,人们已经获得了关于酪黄蛋白折叠、结构、动力学和功能的重要知识。在真核生物中,它位于线粒体基质中,最近,它的大分子背景被揭示出来。该蛋白是由铁硫簇组装所需的六个亚基组成的十聚体超复合物的一部分,其中两个亚基以互斥的方式交替。关于Frataxin,研究了致病变异,其中一些表现出降低的构象稳定性,另一些表现出改变的功能。在这篇综述中,我们重点介绍了有关fraataxin及其伴侣的生物物理和生物化学的不同方面,以及目前关于蛋白质静止和翻译后修饰的知识。还将讨论酪黄蛋白及其伙伴在疾病中的作用,包括目前的治疗方法。最后,有一节专门用于理解卵黄蛋白的系统发育分布。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Frataxin: from the sequence to the biological role.

Frataxin is a small protein involved in the rare disease Friedreich's ataxia. During the last few years, significant knowledge has been gained concerning frataxin folding, structure, dynamics, and function. In eukaryotic organisms, it is located in the mitochondrial matrix, and recently, its macromolecular context was revealed. This protein is part of a decameric supercomplex consisting of six subunits required for iron-sulfur cluster assembly, where two of them alternate in a mutually exclusive manner. Regarding Frataxin, pathogenic variants were studied, and while some exhibited reduced conformational stability, others presented an altered function. In this review, we focused on different aspects concerning the biophysics and the biochemistry of frataxin and its partners, as well as on the current knowledge regarding proteostasis and post-translational modifications. The involvement of frataxin and its partners in diseases will also be addressed, including the current therapeutic approaches. Finally, a section is dedicated to understanding the phylogenetic distribution of frataxin.

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来源期刊
Biophysical reviews
Biophysical reviews Biochemistry, Genetics and Molecular Biology-Biophysics
CiteScore
8.90
自引率
0.00%
发文量
93
期刊介绍: Biophysical Reviews aims to publish critical and timely reviews from key figures in the field of biophysics. The bulk of the reviews that are currently published are from invited authors, but the journal is also open for non-solicited reviews. Interested authors are encouraged to discuss the possibility of contributing a review with the Editor-in-Chief prior to submission. Through publishing reviews on biophysics, the editors of the journal hope to illustrate the great power and potential of physical techniques in the biological sciences, they aim to stimulate the discussion and promote further research and would like to educate and enthuse basic researcher scientists and students of biophysics. Biophysical Reviews covers the entire field of biophysics, generally defined as the science of describing and defining biological phenomenon using the concepts and the techniques of physics. This includes but is not limited by such areas as: - Bioinformatics - Biophysical methods and instrumentation - Medical biophysics - Biosystems - Cell biophysics and organization - Macromolecules: dynamics, structures and interactions - Single molecule biophysics - Membrane biophysics, channels and transportation
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