Associated Papers
Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity.
Zhang Y et al.
Molecular Metabolism, 2024
Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity.
Zhang Y et al.
Biorxiv : the Preprint Server for Biology, 2023
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
In celebration of a century with insulin - Update of insulin gene mutations in diabetes.
Støy J et al.
Molecular Metabolism, 2021
Structural Lessons From the Mutant Proinsulin Syndrome.
Dhayalan B et al.
Frontiers in Endocrinology, 2021
The KINGS Ins2 +/G32S Mouse: A Novel Model of β-Cell Endoplasmic Reticulum Stress and Human Diabetes.
Austin ALF et al.
Diabetes, 2020
Insulin2Q104del (Kuma) mutant mice develop diabetes with dominant inheritance.
Sakano D et al.
Scientific Reports, 2020
"Register-shift" insulin analogs uncover constraints of proteotoxicity in protein evolution.
Rege NK et al.
The Journal of Biological Chemistry, 2020
The Endoplasmic Reticulum and Calcium Homeostasis in Pancreatic Beta Cells.
Zhang IX et al.
Endocrinology, 2020
Mild maternal hyperglycemia in INSC93S transgenic pigs causes impaired glucose tolerance and metabolic alterations in neonatal offspring.
Renner S et al.
Disease Models & Mechanisms, 2019
Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes.
Balboa D et al.
Elife, 2018
Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.
Cnop M et al.
Molecular Metabolism, 2017
INS-gene mutations: from genetics and beta cell biology to clinical disease.
Liu M et al.
Molecular Aspects of Medicine, 2015
Dysfunctional mitochondrial bioenergetics and oxidative stress in Akita(+/Ins2)-derived β-cells.
Mitchell T et al.
American Journal of Physiology. Endocrinology and Metabolism, 2013
Diabetes mellitus due to the toxic misfolding of proinsulin variants.
Weiss MA
Febs Letters, 2013
Permanent neonatal diabetes in INS(C94Y) transgenic pigs.
Renner S et al.
Diabetes, 2013
Transgenic zebrafish model of the C43G human insulin gene mutation.
Eames SC et al.
Journal of Diabetes Investigation, 2013
[Pathogenesis of diabetes mellitus and diabetic complications. Studies on diabetic mouse models].
Herbach N
Der Pathologe, 2012
[Insulin gene mutations].
Nishi M
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
Early insulin therapy prevents beta cell loss in a mouse model for permanent neonatal diabetes (Munich Ins2(C95S)).
Kautz S et al.
Diabetologia, 2012
Insulin gene mutations and diabetes.
Nishi M et al.
Journal of Diabetes Investigation, 2011
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
Støy J et al.
Reviews in Endocrine & Metabolic Disorders, 2010
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2).
van Bürck L et al.
American Journal of Physiology. Endocrinology and Metabolism, 2010
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.
Meur G et al.
Diabetes, 2010
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
Park SY et al.
Biochemical and Biophysical Research Communications, 2010
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill EL et al.
Diabetes, 2008
Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects.
Aigner B et al.
American Journal of Physiology. Endocrinology and Metabolism, 2008
Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice.
Herbach N et al.
Diabetes, 2007
Mutation study of antithrombin: the roles of disulfide bonds in intracellular accumulation and formation of russell body-like structures.
Tanaka Y et al.
Journal of Biochemistry, 2005
[Insulin gene mutation].
Nishi M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002