Mendelian neurodegenerative disease genes involved in autophagy
Open Access
- 5 May 2020
- journal article
- review article
- Published by Springer Science and Business Media LLC in Cell Discovery
- Vol. 6 (1), 1-13
- https://doi.org/10.1038/s41421-020-0158-y
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.Keywords
Funding Information
- Fondation Roger de Spoelberch
- Alzheimer's Research UK
- UK Dementia Research Institute
- Takeda Science Foundation
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