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Updated: Dec 16, 2025

Exploring the Regulation of Lipid Droplet Catabolism through Lipophagy
Published on: January 31, 2025
Genetic defects of autophagy linked to disease
Milana Fraiberg1, Zvulun Elazar1
1Department of Biomolecular Sciences, The Weizmann Institute of Science, Rehovot, Israel.
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.
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