Author:
Stamatakou Eleanna,Wróbel Lidia,Hill Sandra Malmgren,Puri Claudia,Son Sung Min,Fujimaki Motoki,Zhu Ye,Siddiqi Farah,Fernandez-Estevez Marian,Manni Marco M.,Park So Jung,Villeneuve Julien,Rubinsztein David Chaim
Abstract
AbstractThe lysosomal degradation pathway of macroautophagy (herein referred to as autophagy) plays a crucial role in cellular physiology by regulating the removal of unwanted cargoes such as protein aggregates and damaged organelles. Over the last five decades, significant progress has been made in understanding the molecular mechanisms that regulate autophagy and its roles in human physiology and diseases. These advances, together with discoveries in human genetics linking autophagy-related gene mutations to specific diseases, provide a better understanding of the mechanisms by which autophagy-dependent pathways can be potentially targeted for treating human diseases. Here, we review mutations that have been identified in genes involved in autophagy and their associations with neurodegenerative diseases.
Funder
Fondation Roger de Spoelberch
Alzheimer's Research UK
UK Dementia Research Institute
Takeda Science Foundation
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Genetics,Molecular Biology,Biochemistry
Cited by
33 articles.
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