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Article

Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.

Journal of the American Society of Nephrology : JASN - 1 Oct 2005

Choi Sung Won, Ryu Ok Hee, Choi Sun Jin, Song In Sun, Bleyer Anthony J, Hart Thomas C

Abstract excerpt

As a consequence of uromodulin gene mutations, individuals develop precocious hyperuricemia, gout, and progressive renal failure. In vitro studies suggest that pathologic accumulation of uromodulin/Tamm-Horsfall glycoprotein (THP) occurs in the endoplasmic reticulum (ER), but the pathophysiology of renal damage is unclear. It was hypothesized that programmed cell death triggered by accumulation of misfolded THP...

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Source

Identifiers

PMID: 16135773
DOI: 10.1681/ASN.2005050461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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