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Article

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.

PloS one - 1 Jan 2017

Schaeffer Céline, Merella Stefania, Pasqualetto Elena, Lazarevic Dejan, Rampoldi Luca

Abstract excerpt

Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD), characterised by hyperuricemia, gout...

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Source

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Identifiers

PMID: 28437467
DOI: 10.1371/journal.pone.0175970
PMCID: PMC5402980

Genes

UMOD
XBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.PMID 28437467Read ↗

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