@inbook{9b0d618e9393486d862ffdbf7df0212c,
title = "Genetic defects of autophagy linked to disease",
abstract = "Autophagy is a highly conserved lysosomal degradation pathway responsible for rapid elimination of unwanted cytoplasmic materials in response to stressful conditions. This cytoprotective function is essential for maintenance of cellular homeostasis and is mediated by conserved autophagy-related genes (ATG) and autophagic receptors. Impairment of autophagy frequently results in a wide variety of human pathologies. Recent studies have revealed direct links between diverse diseases and genetic defects of core autophagy genes, autophagy-associated genes, and genes encoding autophagic receptors. Here we provide a general description of autophagy-related genes and their mutations or polymorphisms that play a causative role in specific human disorders or may be risk factors for them.",
author = "Milana Fraiberg and Zvulun Elazar",
note = "Z.E. is the incumbent of the Harold L. Korda Professorial Chair of Biology and is supportedby the Jeanne and Joseph Nissim Center for Life Sciences Research, and the Estate ofEmile Mimran. We are grateful for funding from the Israel Science Foundation ISF(Grant #215/19), the Legacy Heritage Fund (Grant #1935/16), the Sagol LongevityFoundation, and the Yeda-Sela Center for Basic Research. We apologize to those authorswhose works could not be cited here because of the journal{\textquoteright}s restriction of citations",
year = "2020",
doi = "https://doi.org/10.1016/bs.pmbts.2020.04.001",
language = "الإنجليزيّة",
isbn = "978-0-12-822021-4",
series = "Progress in Molecular Biology and Translational Science",
publisher = "Academic Press Inc.",
pages = "293--323",
editor = "AB Martinez and L Galluzzi",
booktitle = "Autophagy in health and disease",
address = "الولايات المتّحدة",
}