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Mendelian neurodegenerative disease genes involved in autophagy.

Published version
Peer-reviewed

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Authors

Stamatakou, Eleanna 
Wróbel, Lidia 
Hill, Sandra Malmgren 
Puri, Claudia 
Son, Sung Min 

Abstract

The 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.

Description

Keywords

Macroautophagy, Mechanisms of disease

Journal Title

Cell Discov

Conference Name

Journal ISSN

2056-5968
2056-5968

Volume Title

6

Publisher

Springer Science and Business Media LLC
Sponsorship
European Commission Horizon 2020 (H2020) Marie Sk?odowska-Curie actions (842919)