{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Meur G"],"funding":["NIDDK NIH HHS","Medical Research Council","Wellcome Trust"],"pagination":["653-61"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2828668"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["59(3)"],"pubmed_abstract":["Objective
Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore the molecular mechanisms involved.Research design and methods
The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at <35 years) and 292 normoglycemic control subjects of French origin. Three identified insulin mutants were generated by site-directed mutagenesis of cDNA encoding a preproinsulin-green fluorescent protein (GFP) (C-peptide) chimera. Intracellular targeting was assessed in clonal beta-cell"],"journal":["Diabetes"],"pubmed_title":["Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention."],"pmcid":["PMC2828668"],"funding_grant_id":["R01 DK071962","G0401641","081958/2/07/Z","G0700342","081958","G0600331","R01 DK-071962-01"],"pubmed_authors":["Fetita S","Harun N","Pedersen O","Guillausseau PJ","Gautier JF","Virally M","Simon A","Hansen T","Bonnefond A","Vaxillaire M","Tarasov AI","Meur G","Rutter GA","Boesgaard TW","Polak M","Dechaume A","Froguel P"],"additional_accession":[]},"is_claimable":false,"name":"Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.","description":"Objective
Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore the molecular mechanisms involved.Research design and methods
The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at <35 years) and 292 normoglycemic control subjects of French origin. Three identified insulin mutants were generated by site-directed mutagenesis of cDNA encoding a preproinsulin-green fluorescent protein (GFP) (C-peptide) chimera. Intracellular targeting was assessed in clonal beta-cell","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Mar","modification":"2026-06-04T03:44:03.359Z","creation":"2026-05-06T03:13:11.197Z"},"accession":"S-EPMC2828668","cross_references":{"pubmed":["20007936"],"doi":["10.2337/db09-1091"]}}