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• W2024503174 abstract "Type 1B diabetes (typically with early onset and without islet autoantibodies) has been described in patients bearing small coding sequence mutations in the INS gene. Not all mutations in the INS gene cause the autosomal dominant Mutant INS-gene Induced Diabetes of Youth (MIDY) syndrome, but most missense mutations affecting proinsulin folding produce MIDY. MIDY patients are heterozygotes, with the expressed mutant proinsulins exerting dominant-negative (toxic gain of function) behavior in pancreatic beta cells. Here we focus primarily on proinsulin folding in the endoplasmic reticulum, providing insight into perturbations of this folding pathway in MIDY. Accumulated evidence indicates that, in the molecular pathogenesis of the disease, misfolded proinsulin exerts dominant effects that initially inhibit insulin production, progressing to beta cell demise with diabetes. Type 1B diabetes (typically with early onset and without islet autoantibodies) has been described in patients bearing small coding sequence mutations in the INS gene. Not all mutations in the INS gene cause the autosomal dominant Mutant INS-gene Induced Diabetes of Youth (MIDY) syndrome, but most missense mutations affecting proinsulin folding produce MIDY. MIDY patients are heterozygotes, with the expressed mutant proinsulins exerting dominant-negative (toxic gain of function) behavior in pancreatic beta cells. Here we focus primarily on proinsulin folding in the endoplasmic reticulum, providing insight into perturbations of this folding pathway in MIDY. Accumulated evidence indicates that, in the molecular pathogenesis of the disease, misfolded proinsulin exerts dominant effects that initially inhibit insulin production, progressing to beta cell demise with diabetes." @default.
• W2024503174 created "2016-06-24" @default.
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• W2024503174 creator A5080802288 @default.
• W2024503174 date "2010-11-01" @default.
• W2024503174 modified "2023-10-18" @default.
• W2024503174 title "Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth" @default.
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• W2024503174 doi "https://doi.org/10.1016/j.tem.2010.07.001" @default.
• W2024503174 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2967602" @default.
• W2024503174 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20724178" @default.
• W2024503174 hasPublicationYear "2010" @default.
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