Associated Papers
Hsp70 promotes maturation of uromodulin mutants that cause familial juvenile hyperuricemic nephropathy and suppresses cellular damage.
Utami SB et al.
Clinical and Experimental Nephrology, 2022
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K et al.
Kidney International Reports, 2020
32954071 (PubMed )
Supplement: mmc1.pdf
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.
Schaeffer C et al.
Plos One, 2017
Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat.
Utami SB et al.
Clinical and Experimental Nephrology, 2015
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.
Kudo E et al.
Kidney International, 2004
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