Identification of polycystin 2 missense mutants targeted for endoplasmic reticulum-associated degradation
Guerriero C, Carattino M, Sharp K, Kantz L, Gresko N, Caplan M, Brodsky J. Identification of polycystin 2 missense mutants targeted for endoplasmic reticulum-associated degradation. American Journal Of Physiology - Cell Physiology 2024, 328: c483-c499. PMID: 39714991, PMCID: PMC12168846, DOI: 10.1152/ajpcell.00776.2024.Peer-Reviewed Original ResearchConceptsEndoplasmic reticulum-associated degradationPolycystin-2Autosomal dominant polycystic kidney diseaseEndoplasmic reticulum-associated degradation pathwayMissense mutationsGrowth of yeast strainsDisease-causing missense mutationsDisease-associated mutantsProteasome-dependent degradationHEK293 cellsConsistent with defectsDisease-linked mutationsHEK293 cell modelYeast modelYeast systemYeast strainsGenetic systemTreat autosomal dominant polycystic kidney diseaseMissense variantsProtein misfoldingProtein foldingCellular processesIncreased polyubiquitinationMisfolding phenotypeChemical chaperones
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