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Autophagy genes in biology and disease
Nature Reviews Genetics ( IF 39.1 ) Pub Date : 2023-01-12 , DOI: 10.1038/s41576-022-00562-w
Hayashi Yamamoto 1, 2 , Sidi Zhang 1 , Noboru Mizushima 1
Affiliation  

Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition. Concomitantly, mutations in autophagy genes have been linked to human disorders, particularly neurodegenerative diseases, emphasizing the potential pathogenic implications of autophagy defects. Accumulating genome data have also illuminated the evolution of autophagy genes within eukaryotes as well as their transition from possible ancestral elements in prokaryotes.



中文翻译:

生物学和疾病中的自噬基因

巨自噬和微自噬是高度保守的真核细胞过程,可降解溶酶体中的细胞质物质。这两种途径都涉及由自噬相关蛋白和其他分子调节的特征性膜动力学,其中一些分子在这两种途径之间共享。近年来,冷冻电子显微镜、基于协同进化的结构预测和体外重组等新技术的应用揭示了个体自噬基因产物的功能,特别是在自噬诱导、膜重组和货物识别方面。同时,自噬基因的突变与人类疾病有关,特别是神经退行性疾病,强调了自噬缺陷的潜在致病影响。

更新日期:2023-01-13
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