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Article

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.

Human mutation - 1 Apr 2009

Kereszturi Eva, Szmola Richárd, Kukor Zoltán, Simon Peter, Weiss Frank Ulrich, Lerch Markus M, Sahin-Tóth Miklós

Abstract excerpt

We investigated the biochemical properties and cellular expression of the c.346C>T (p.R116C) human cationic trypsinogen (PRSS1) mutant, which we identified in a German family with autosomal dominant hereditary pancreatitis. This mutation leads to an unpaired Cys residue with the potential to interfere with protein folding via incorrect disulfide bond formation. Recombinantly expressed p.R116C trypsinogen...

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Source

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Identifiers

PMID: 19191323
DOI: 10.1002/humu.20853
PMCID: PMC2663013

Genes

PRSS1

Variants

Provenance

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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