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Article

Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells.

Cells - 18 Jan 2020

Dalva Monica, Lavik Ida K, El Jellas Khadija, Gravdal Anny, Lugea Aurelia, Pandol Stephen J, Njølstad Pål R, Waldron Richard T, Fjeld Karianne, Johansson Bente B, Molven Anders

Abstract excerpt

Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes to chronic pancreatitis, whereas the CEL-MODY variant causes MODY8, an inherited disorder of endocrine and exocrine pancreatic dysfunction. Both pathogenic variants exhibit altered biochemical and cellular properties compared with the normal CEL protein...

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PMID: 31963687
DOI: 10.3390/cells9010244
PMCID: PMC7017060

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Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells.PMID 31963687Read ↗

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Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.Semantic proximity Read ↗

Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.Semantic proximity Read ↗

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.Semantic proximity Read ↗

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The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase ( <i>CEL</i> ) gene determines pathogenicitySemantic proximity Read ↗

Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.Semantic proximity Read ↗

The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.Semantic proximity Read ↗

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