Open access
Oct 2026
Targeting HSPA1A with geranylgeranylacetone alleviates ADTKD-UMOD via suppression of endoplasmic reticulum stress and ferroptosis.
Missense mutations in the UMOD gene are a well-established genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). Here, we report two ADTKD pedigrees carrying de novo UMOD mutations, p.His36Tyr (H36Y) and p.Trp31Cys (W31C). To elucidate the underlying pathogenic mechanisms and explore targeted t...
Wen Shi, Yan Yang, Xiang Wen et al.
· JCI Insight · 0 citations