Associated Papers
Parkinson's disease-linked Kir4.2 mutation R28C leads to loss of ion channel function.
Chen X et al.
The Journal of Physiology, 2025
Selectivity filter mutations shift ion permeation mechanism in potassium channels.
Mironenko A et al.
Pnas Nexus, 2024
A selectivity filter mutation provides insights into gating regulation of a K+ channel.
Friesacher T et al.
Communications Biology, 2022
How do Kir3.4 mutations cause hereditary hyperaldosteronism?
Kubo Y
The Journal of Physiology, 2022
A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.
Chen IS et al.
The Journal of Physiology, 2022
Mixed SYGnals in potassium channels: a mechanism for alternative ion conduction in human Kir3.2 channel mutations.
Light PE
The Journal of Physiology, 2022
KCNJ6 variants modulate reward-related brain processes and impact executive functions in attention-deficit/hyperactivity disorder.
Ziegler GC et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Horvath GA et al.
Neuroscience, 2018
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
Nibbeling EA et al.
Neuroscience and Biobehavioral Reviews, 2017
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Masotti A et al.
American Journal of Human Genetics, 2015
Altered and dynamic ion selectivity of K+ channels in cell development and excitability.
Chen H et al.
Trends in Pharmacological Sciences, 2014
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013
Excision of Trpv6 gene leads to severe defects in epididymal Ca2+ absorption and male fertility much like single D541A pore mutation.
Weissgerber P et al.
The Journal of Biological Chemistry, 2012
Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human.
Verma R et al.
Biochimica Et Biophysica Acta, 2010
Cell death in weaver mouse cerebellum.
Harkins AB et al.
Cerebellum (london, England), 2002
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001
Ion selectivity filter regulates local anesthetic inhibition of G-protein-gated inwardly rectifying K+ channels.
Slesinger PA
Biophysical Journal, 2001
Potassium channels: molecular defects, diseases, and therapeutic opportunities.
Shieh CC et al.
Pharmacological Reviews, 2000
Dominant-negative mutants identify a role for GIRK channels in D3 dopamine receptor-mediated regulation of spontaneous secretory activity.
Kuzhikandathil EV et al.
The Journal of General Physiology, 2000
Impermeability of the GIRK2 weaver channel to divalent cations.
Hou P et al.
American Journal of Physiology. Cell Physiology, 2000
Mutation analysis of the inwardly rectifying K(+) channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.
Hallmann K et al.
American Journal of Medical Genetics, 2000
Channelopathies of inwardly rectifying potassium channels.
Abraham MR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1999
The weaver mouse gain-of-function phenotype of dopaminergic midbrain neurons is determined by coactivation of wvGirk2 and K-ATP channels.
Liss B et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
The inwardly rectifying K(+) channel subunit GIRK1 rescues the GIRK2 weaver phenotype.
Hou P et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Normal cerebellar development but susceptibility to seizures in mice lacking G protein-coupled, inwardly rectifying K+ channel GIRK2.
Signorini S et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels.
Slesinger PA et al.
Neuron, 1996