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

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

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,...

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Bibliographic Details
Main Authors: Máté Sándor, Franziska G. Thiel, Margit Schmid, Alexandra Demcsák, Nataly C. Morales Granda, Balázs Csaba Németh, Sandor Vajda, André Hoerning, Miklós Sahin-Tóth
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
pancreatitis
misfolding
endoplasmic reticulum stress
carboxypeptidase
genetic risk
Online Access:https://www.mdpi.com/1422-0067/23/24/15463

Internet

https://www.mdpi.com/1422-0067/23/24/15463

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