The role of the carboxyl ester lipase (CEL) gene in pancreatic disease

BB Johansson, K Fjeld, K El Jellas, A Gravdal, M Dalva… - Pancreatology, 2018 - Elsevier
The enzyme carboxyl ester lipase (CEL), also known as bile salt-dependent or-stimulated
lipase (BSDL, BSSL), hydrolyzes dietary fat, cholesteryl esters and fat-soluble vitamins in the …

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

K Fjeld, FU Weiss, D Lasher, J Rosendahl, JM Chen… - Nature …, 2015 - nature.com
Carboxyl ester lipase is a digestive pancreatic enzyme encoded by the CEL gene. Mutations
in CEL cause maturity-onset diabetes of the young as well as pancreatic exocrine …

p53 as a double-edged sword in the progression of non-alcoholic fatty liver disease

Z Yan, X Miao, B Zhang, J Xie - Life sciences, 2018 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) derives from the accumulation of hepatic lipids,
which leads to liver steatosis and then triggers non-alcoholic steatohepatitis, sometimes …

Abnormal exocrine–endocrine cell cross-talk promotes β-cell dysfunction and loss in MODY8

S Kahraman, E Dirice, G Basile, D Diegisser… - Nature …, 2022 - nature.com
MODY8 (maturity-onset diabetes of the young, type 8) is a dominantly inherited monogenic
form of diabetes associated with mutations in the carboxyl ester lipase (CEL) gene …

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

V Bansal, J Gassenhuber, T Phillips, G Oliveira… - BMC medicine, 2017 - Springer
Background Diagnosis of monogenic as well as atypical forms of diabetes mellitus has
important clinical implications for their specific diagnosis, prognosis, and targeted treatment …

Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases

K El Jellas, P Dušátková, IS Haldorsen… - The Journal of …, 2022 - academic.oup.com
Context Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations
in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several …

Branched fatty acid esters of hydroxy fatty acids are preferred substrates of the MODY8 protein carboxyl ester lipase

MJ Kolar, SS Kamat, WH Parsons, EA Homan… - Biochemistry, 2016 - ACS Publications
A recently discovered class of endogenous mammalian lipids, branched fatty acid esters of
hydroxy fatty acids (FAHFAs), possesses anti-diabetic and anti-inflammatory activities. Here …

A carboxyl ester lipase (CEL) mutant causes chronic pancreatitis by forming intracellular aggregates that activate apoptosis

X Xiao, G Jones, WA Sevilla, DB Stolz… - Journal of Biological …, 2016 - ASBMB
Patients with chronic pancreatitis (CP) frequently have genetic risk factors for disease. Many
of the identified genes have been connected to trypsinogen activation or trypsin inactivation …

[HTML][HTML] The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice

K Fjeld, A Gravdal, RS Brekke, J Alam, SJ Wilhelm… - Pancreatology, 2022 - Elsevier
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 …

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity

A Gravdal, X Xiao, M Cnop, K El Jellas… - Journal of Biological …, 2021 - ASBMB
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 …