Article
A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies.
Trends in molecular medicine - 1 Apr 2021
Dvela-Levitt Moran, Shaw Jillian L, Greka Anna
Abstract excerpt
Autosomal dominant tubulointerstitial kidney diseases (ADTKDs) are a group of rare genetic diseases that lead to kidney failure. Mutations in the MUC1 gene cause ADTKD-MUC1 (MUC1 kidney disease, MKD), a disorder with no available therapies. Recent studies have identified the molecular and cellular mechanisms that drive MKD disease pathogenesis. Armed with patient-derived cell lines and pluripotent stem cell...
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