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Article

Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62

20 Jun 2022

Abstract excerpt

Autophagy is a housekeeping mechanism tasked with eliminating misfolded proteins and damaged organelles to maintain cellular homeostasis. Autophagy deficiency results in increased oxidative stress, DNA damage and chronic cellular injury. Among the core genes in the autophagy machinery, ATG7 is required for autophagy initiation and autophagosome formation. Based on the analysis of an extended pedigree of familial...

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PMID: 35725745
DOI: 10.1038/s41598-022-13569-4

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