Associated Papers
Integrative Study of the Structural and Dynamical Properties of a KirBac3.1 Mutant: Functional Implication of a Highly Conserved Tryptophan in the Transmembrane Domain.
Fagnen C et al.
International Journal of Molecular Sciences, 2021
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
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 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
27118464 (PubMed )
Supplement: 125_2016_3964_MOESM1_ESM.pdf
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
O'Connell SM et al.
Clinical Case Reports, 2015
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
Männikkö R et al.
The Journal of Physiology, 2011
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