Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodThe neural substrates of rapid-onset Dystonia-Parkinsonism.Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal ModelsThe Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and SenescenceManaging Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit IsoformsNovel role of ouabain as a cystogenic factor in autosomal dominant polycystic kidney diseaseNovel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP modelsAlternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.Methamphetamine and inflammatory cytokines increase neuronal Na+/K+-ATPase isoform 3: relevance for HIV associated neurocognitive disordersAlternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryAnimal models of bipolar mania: The past, present and future.Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.New insights into behaviour using mouse ENU mutagenesisMapping genetic modifiers of survival in a mouse model of Dravet syndrome.Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.Reorganization of inhibitory synaptic circuits in rodent chronically injured epileptogenic neocortex.Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.Brain Na(+), K(+)-ATPase Activity In Aging and Disease.Centella asiatica Attenuates Diabetes Induced Hippocampal Changes in Experimental Diabetic Rats.Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.Distinct neurological disorders with ATP1A3 mutationsIdentification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.Animal models of dystonia: Lessons from a mutant rat.Mania-like behavior induced by genetic dysfunction of the neuron-specific Na+,K+-ATPase α3 sodium pump.Electrogenic properties of the Na⁺/K⁺ ATPase control transitions between normal and pathological brain states.α-synuclein assemblies sequester neuronal α3-Na+/K+-ATPase and impair Na+ gradientAberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.Expression of mutant α1 Na/K-ATPase defective in conformational transition attenuates Src-mediated signal transduction.α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish.A role for cerebellum in the hereditary dystonia DYT1.The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.Pathogenic mechanisms of prion protein, amyloid-β and α-synuclein misfolding: the prion concept and neurotoxicity of protein oligomers.Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3-deficient heterozygous mice.Loss of Na(+)/K(+)-ATPase in Drosophila photoreceptors leads to blindness and age-dependent neurodegeneration.
P2860
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P2860
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutation I810N in the alpha3 i ...... d hyperexcitability in the CNS
@nl
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@ast
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@en
type
label
Mutation I810N in the alpha3 i ...... d hyperexcitability in the CNS
@nl
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@ast
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@en
prefLabel
Mutation I810N in the alpha3 i ...... d hyperexcitability in the CNS
@nl
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@ast
Mutation I810N in the alpha3 i ...... hyperexcitability in the CNS.
@en
P2093
P2860
P50
P3181
P356
P1476
Mutation I810N in the alpha3 i ...... d hyperexcitability in the CNS
@en
P2093
Allison R Bechard
Berge A Minassian
Cameron A Ackerley
Janne Petersen
Jason P Lerch
Jeffrey T Henderson
John C Roder
Laleh Sinai
Steven Duffy
P2860
P304
14085-14090
P3181
P356
10.1073/PNAS.0904817106
P407
P577
2009-08-03T00:00:00Z