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

Journal of Biological Chemistry

Volumn 286, Issue 40, 2011, Pages 34593-34605

  Johansson, Bente B ^a,b   Torsvik, Janniche ^a,b   Bjørkhaug, Lise ^a,b   Vesterhus, Mette ^a,b   Ragvin, Anja ^a,b   Tjora, Erling ^a,b   Fjeld, Karianne ^a,b   Hoem, Dag ^a,b   Johansson, Stefan ^a,b   Ræder, Helge ^a,b   Lindquist, Susanne ^c   Hernell, Olle ^c   Cnop, Miriam ^d,e   Saraste, Jaakko ^a   Flatmark, Torgeir ^a   Molven, Anders ^a,b   Njølstad, Pål R ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UMEÅ UNIVERSITY   (Sweden)

^d UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^e ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACINAR CELLS; EXOCRINE DYSFUNCTION; FRAME-SHIFT MUTATION; HEK293 CELLS; IN-SILICO; KNOCK OUTS; LIPASE GENE; LONG RANGE INTERACTIONS; MUTANT PROTEINS; PANCREATIC TISSUE; PHYSICOCHEMICAL PROPERTY; PROTEIN MISFOLDING; TANDEM REPEATS; UBIQUITINATION; WILD TYPES;

CELL MEMBRANES; CHEMICAL PROPERTIES; CYTOLOGY; ESTERIFICATION; ESTERS; GENES; QUALITY CONTROL; TISSUE;

PROTEINS;

CARBOXYL ESTER LIPASE; MUTANT PROTEIN; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

ARTICLE; CARBOXYL ESTER LIPASE GENE; CARBOXYL ESTER LIPASE GENE MATURITY ONSET DIABETES OF THE YOUNG; CELL STRAIN HEK293; COMPUTER ANALYSIS; CONTROLLED STUDY; DIABETES MELLITUS; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MACROMOLECULE; MOLECULAR PATHOLOGY; PANCREAS EXOCRINE INSUFFICIENCY; PH; PHYSICAL CHEMISTRY; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; PROTEIN INTERACTION; PROTEIN SECRETION; QUALITY CONTROL; STABLE EXPRESSION; TANDEM REPEAT; UBIQUITINATION; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; CARBOXYLESTERASE; DIABETES MELLITUS, TYPE 2; ENDOPLASMIC RETICULUM; HUMANS; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION; PANCREAS, EXOCRINE; POLYLYSINE; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

MUS;

EID: 80053422053     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.222679     Document Type: Article

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