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Article

Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Feb 2025

Sándor Máté, Vitale David S, Nagy Zoltán Attila, Ibrahim Sherif Y, Abu-El-Haija Maisam, Lazou Maria, Vajda Sandor, Sahin-Tóth Miklós

Abstract excerpt

BACKGROUND/OBJECTIVES: Genetic variants in PRSS1 encoding human cationic trypsinogen are associated with hereditary pancreatitis. The clinically frequent variants exert their pathogenic effect by increasing intrapancreatic trypsin activity, while a distinct subset of variants causes disease via mutation-induced trypsinogen misfolding and endoplasmic reticulum (ER) stress. Here, we report a novel misfolding PRSS1...

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Share to Endoplasmic Reticulum Chaperone BiP
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39734120
DOI: 10.1016/j.pan.2024.12.013
PMCID: PMC12096409

Genes

PRSS1
XBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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