Biological Functions of Autophagy Genes: A Disease Perspective

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


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Animals
  • Autophagy / genetics*
  • Autophagy / physiology
  • Autophagy-Related Proteins / genetics*
  • Autophagy-Related Proteins / metabolism
  • Homeostasis
  • Humans
  • Lysosomes / metabolism
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Proteins / metabolism
  • Signal Transduction


  • Autophagy-Related Proteins
  • Proteins