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Article

Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).

International journal of molecular sciences - 7 Dec 2022

Sándor Máté, Thiel Franziska G, Schmid Margit, Demcsák Alexandra, Morales Granda Nataly C, Németh Balázs Csaba, Vajda Sandor, Hoerning André, Sahin-Tóth Miklós

Abstract excerpt

Inborn mutations in the digestive protease carboxypeptidase A1 (CPA1) gene may be associated with hereditary and idiopathic chronic pancreatitis (CP). Pathogenic mutations, such as p.N256K, cause intracellular retention and reduced secretion of CPA1, accompanied by endoplasmic reticulum (ER) stress, suggesting that mutation-induced misfolding underlies the phenotype. Here, we report the novel p.G250A CPA1...

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Identifiers

PMID: 36555104
DOI: 10.3390/ijms232415463
PMCID: PMC9779553

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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