Mendelian neurodegenerative disease genes involved in autophagy.

Authors :: Stamatakou E
Wróbel L
Hill SM
Puri C
Son SM
Fujimaki M
Zhu Y
Siddiqi F
Fernandez-Estevez M
Manni MM
Park SJ
Villeneuve J
Rubinsztein DC
Source :: Cell discovery [Cell Discov] 2020 May 05; Vol. 6, pp. 24. Date of Electronic Publication: 2020 May 05 (Print Publication: 2020).
Publication Year :: 2020
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.<br />Competing Interests: Conflict of interestD.C.R. is CSO of Aladdin Healthcare Technologies.<br /> (© The Author(s) 2020.)