Associated Papers
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
McClenaghan C et al.
Hormone Research in Paediatrics, 2022
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 2021
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Intellectual Disability in KATP Channel Neonatal Diabetes.
Svalastoga P et al.
Diabetes Care, 2020
Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.
Lo FS
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato N et al.
Diabetologia, 2016
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.
Ahn SY et al.
Korean Journal of Pediatrics, 2015
Sulfonylurea receptors regulate the channel pore in ATP-sensitive potassium channels via an intersubunit salt bridge.
Lodwick D et al.
The Biochemical Journal, 2014
Regulation of cardiac ATP-sensitive potassium channel surface expression by calcium/calmodulin-dependent protein kinase II.
Sierra A et al.
The Journal of Biological Chemistry, 2013
Parametrisation of the free energy of ATP binding to wild-type and mutant Kir6.2 potassium channels.
Moran O et al.
Biophysical Chemistry, 2013
A role of the sulfonylurea receptor 1 in endocytic trafficking of ATP-sensitive potassium channels.
Bruederle CE et al.
Traffic (copenhagen, Denmark), 2011
An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
Craig TJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus.
Ting WH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
A cytosolic factor that inhibits KATP channels expressed in Xenopus oocytes by impairing Mg-nucleotide activation by SUR1.
Tammaro P et al.
The Journal of Physiology, 2009
Pharmacogenomics in type II diabetes mellitus management: Steps toward personalized medicine.
Avery P et al.
Pharmacogenomics and Personalized Medicine, 2009
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
Tammaro P et al.
Diabetologia, 2008
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
Tammaro P et al.
The Journal of Physiology, 2007
Trafficking of ATP-sensitive potassium channels in health and disease.
Sivaprasadarao A et al.
Biochemical Society Transactions, 2007
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.
Proks P et al.
Human Molecular Genetics, 2007
The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.
Tammaro P et al.
The Journal of Physiology, 2007
Management of neonatal and infancy-onset diabetes mellitus.
Søvik O et al.
Endocrine Development, 2007
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
Girard CA et al.
Pflugers Archiv : European Journal of Physiology, 2006
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
Flechtner I et al.
Diabetes & Metabolism, 2006
Kir6.2 mutations causing neonatal diabetes prevent endocytosis of ATP-sensitive potassium channels.
Mankouri J et al.
The Embo Journal, 2006
Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.
Koster JC et al.
Diabetes, 2005
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
Tammaro P et al.
The Embo Journal, 2005
Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
Haider S et al.
Journal of Molecular and Cellular Cardiology, 2005
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
Antcliff JF et al.
The Embo Journal, 2005
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.
Slingerland AS et al.
Annals of Medicine, 2005
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen JV et al.
Diabetes, 2004