• The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice 

      Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim; Alam, Jahedul; Wilhelm, Steven J.; el Jellas, Khadija; Pettersen, Helene Nazmiye; Lin, Jianguo; Solheim, Marie Holm; Steine, Solrun; Johansson, Bente Berg; Njølstad, Pål Rasmus; Verbeke, Caroline Sophie; Xiao, Xunjun; Lowe, Mark E.; Molven, Anders (Journal article; Peer reviewed, 2022)
      Background & aims: The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant suggested to increase the risk of chronic pancreatitis ...
    • The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity 

      Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)
      Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar ...