Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions - Wikidata - awgldk - TriplyDB

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

http://www.wikidata.org/entity/Q28279708

about

Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels Driving with no brakes: molecular pathophysiology of Kv7 potassium channels Surface expression and subunit specific control of steady protein levels by the Kv7.2 helix A-B linker A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.Diurnal Variation Has Effect on Differential Gene Expression Analysis in the Hippocampus of the Pilocarpine-Induced Model of Mesial Temporal Lobe Epilepsy.Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Role of genetics in the diagnosis and treatment of epilepsy.Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.Nervous system KV7 disorders: breakdown of a subthreshold brake.Protein arginine methylation facilitates KCNQ channel-PIP2 interaction leading to seizure suppression.Differential Regulation of PI(4,5)P2 Sensitivity of Kv7.2 and Kv7.3 Channels by Calmodulin.Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.Involvement of KCNQ2 subunits in [3H]dopamine release triggered by depolarization and pre-synaptic muscarinic receptor activation from rat striatal synaptosomes.14-3-3 Proteins regulate K2P 5.1 surface expression on T lymphocytes.Kv7 potassium channel subunits and M currents in cultured hippocampal interneurons.Endoplasmic reticulum retention of KCNQ2 potassium channel mutants following temperature elevation.Kv7 channels regulate pairwise spiking covariability in health and disease.Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutants

P2860

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P2860

Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions

http://www.wikidata.org/entity/Q28279708

description

2006 nî lūn-bûn

@nan

2006 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հունվարին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Decreased subunit stability as ...... familial neonatal convulsions

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Decreased subunit stability as ...... familial neonatal convulsions

@en

Decreased subunit stability as ...... familial neonatal convulsions

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type

label

Decreased subunit stability as ...... familial neonatal convulsions

@ast

Decreased subunit stability as ...... familial neonatal convulsions

@en

Decreased subunit stability as ...... familial neonatal convulsions

@nl

prefLabel

Decreased subunit stability as ...... familial neonatal convulsions

@ast

Decreased subunit stability as ...... familial neonatal convulsions

@en

Decreased subunit stability as ...... familial neonatal convulsions

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Journal of Biological Chemistry

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Decreased subunit stability as ...... familial neonatal convulsions

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P2093

Antonio Pascotto

http://www.w3.org/2001/XMLSchema#string

Emanuele Miraglia del Giudice

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Francesco Miceli

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Giulia Bellini

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Lucio Annunziato

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Luisa Iodice

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Maria Virginia Soldovieri

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Maurizio Taglialatela

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Pasqualina Castaldo

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Stefano Bonatti

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418-28

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scholarly article

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4264783

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10.1074/JBC.M510980200

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1

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281

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2006-01-06T00:00:00Z

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16260777

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