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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Detalles Bibliográficos
Autores principales: Sándor, Máté, Thiel, Franziska G., Schmid, Margit, Demcsák, Alexandra, Morales Granda, Nataly C., Németh, Balázs Csaba, Vajda, Sandor, Hoerning, André, Sahin-Tóth, Miklós
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779553/
https://www.ncbi.nlm.nih.gov/pubmed/36555104
http://dx.doi.org/10.3390/ijms232415463

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