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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

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

Funder: Fondation Roger de Spoelberch (Roger de Spoelberch Foundation); doi: https://doi.org/10.13039/501100008236


Funder: Alzheimer's Research UK (ARUK); doi: https://doi.org/10.13039/501100002283


Funder: UK Dementia Research Institute


Funder: Takeda Science Foundation; doi: https://doi.org/10.13039/100007449

Keywords

Review Article, /631/80/39/2346, /631/80/304, review-article

Journal Title

Cell Discovery

Conference Name

Journal ISSN

2056-5968

Volume Title

6

Publisher

Springer Singapore