Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding

scientific article published on 09 September 2020

Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.24105
P698PubMed publication ID32906201

P50authorAnders MolvenQ41520946
Karianne FjeldQ55999168
Mark E LoweQ99243099
Xunjun XiaoQ99243100
P2093author name stringSammy Zino
Brett M Cassidy
P2860cites workMutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunctionQ21558630
The structure of truncated recombinant human bile salt-stimulated lipase reveals bile salt-independent conformational flexibility at the active-site loop and provides insights into heparin bindingQ27634891
Structure of the human pancreatic cholesterol esterase geneQ28280871
Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) geneQ28289914
A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.Q31814814
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyQ31814828
Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent PathwayQ33843764
Pancreatic function in carboxyl-ester lipase knockout miceQ34262614
The human pancreas proteome defined by transcriptomics and antibody-based profilingQ34784835
Carboxyl ester lipase: structure-function relationship and physiological role in lipoprotein metabolism and atherosclerosisQ35009938
Pancreatic lipase-related protein-2 (PLRP2) can contribute to dietary fat digestion in human newborns.Q35128128
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 diseaseQ35266682
Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic PancreatitisQ36179367
Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluidQ37403369
Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis: Lessons From INSPPIRE.Q37652912
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitisQ37660241
No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian PopulationsQ37737642
Genetic risk in chronic pancreatitis: the misfolding-dependent pathwayQ39398523
A carboxyl ester lipase (CEL) mutant causes chronic pancreatitis by forming intracellular aggregates that activate apoptosisQ42275500
Peering Into the "Black Box" of the Complex Chronic Pancreatitis SyndromeQ42640898
A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate ApoptosisQ42725781
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunctionQ42948132
Human Pancreatic Acinar Cells: Proteomic Characterization, Physiologic Responses, and Organellar Disorders in ex Vivo Pancreatitis.Q46513078
The role of the carboxyl ester lipase (CEL) gene in pancreatic diseaseQ47301707
Natural history following the first attack of acute pancreatitisQ47733611
Structure and organization of the human carboxyl ester lipase locusQ48039100
Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer.Q51368100
Chronic pancreatitis.Q52519464
The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinantsQ57471351
Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitisQ89482146
Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in miceQ90473602
The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitisQ91621460
Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic PancreatitisQ91791071
Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic CellsQ92813781
P921main subjectchronic pancreatitisQ1996053
P577publication date2020-09-09
P1433published inHuman MutationQ5937269
P1476titleSingle nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding

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