Mendelian neurodegenerative disease genes involved in autophagy.
Ontology highlight
ABSTRACT:
SUBMITTER: Stamatakou E
PROVIDER: S-EPMC7198619 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou Eleanna E Wróbel Lidia L Hill Sandra Malmgren SM Puri Claudia C Son Sung Min SM Fujimaki Motoki M Zhu Ye Y Siddiqi Farah F Fernandez-Estevez Marian M Manni Marco M MM Park So Jung SJ Villeneuve Julien J Rubinsztein David Chaim DC
Cell discovery 20200505
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 mutat ...[more]
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