Blar i Bergen Open Research Archive på forfatter "Gravdal, Anny"
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Carboxyl ester lipase in pancreatic disease : In vitro and in vivo studies of human pathogenic CEL mutations
Gravdal, Anny (Doctoral thesis, 2023-03-21)Karboksylester-lipase (CEL) er et fordøyelsesenzym som hovedsakelig er uttrykt i bukspytt-kjertelen. Det siste eksonet i CEL-genet inneholder et variabelt antall tandem repetisjoner (VNTR), altså en region av repeterte ... -
Functional characterization of Carboxyl Ester Lipase variants causing diabetes and exocrine dysfunction
Gravdal, Anny (Master thesis, 2016-11-21)The digestive enzyme carboxyl ester lipase (CEL) is mainly expressed in the acinar cells of the pancreas. We have previously identified disease-causing mutations in a variable number of tandem repeats (VNTR) domain, localised ... -
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells
Valvatne, Monica Dalva; el Jellas, Khadija; Gravdal, Anny; Njølstad, Pål Rasmus; Molven, Anders; Fjeld, Karianne; Lugea, Aurelia; Pandol, Stephen J; Waldron, Richard T; Lavik, Ida; Johansson, Bente B. (Journal article; Peer reviewed, 2020)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 ...