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Cell. 2019 Jan 10;176(1-2):11-42. doi: 10.1016/j.cell.2018.09.048.

Biological Functions of Autophagy Genes: A Disease Perspective.

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Center for Autophagy Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Microbiology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:
Equipe 11 labellisée par la Ligue contre le Cancer, Centre de Recherche des Cordeliers, 75006 Paris, France; Cell Biology and Metabolomics platforms, Gustave Roussy Cancer Campus, 94805 Villejuif, France; INSERM, U1138, 75006 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75006 Paris, France; Université Pierre et Marie Curie, Sorbonne Université, 75006 Paris, France; Pôle de Biologie, Hôpital Européen Georges Pompidou, AP-HP, 75015 Paris, France; Karolinska Institute, Department of Women's and Children's Health, Karolinska University Hospital, 17176 Stockholm, Sweden. Electronic address:


The lysosomal degradation pathway of autophagy plays a fundamental role in cellular, tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy-related (ATG) genes. Definitive etiological links exist between mutations in genes that control autophagy and human disease, especially neurodegenerative, inflammatory disorders and cancer. Autophagy selectively targets dysfunctional organelles, intracellular microbes, and pathogenic proteins, and deficiencies in these processes may lead to disease. Moreover, ATG genes have diverse physiologically important roles in other membrane-trafficking and signaling pathways. This Review discusses the biological functions of autophagy genes from the perspective of understanding-and potentially reversing-the pathophysiology of human disease and aging.

[Available on 2020-01-10]
[Indexed for MEDLINE]

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