Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes - Wikidata - wikimedia - TriplyDB

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia Decreased temporal precision of neuronal signaling as a candidate mechanism of auditory processing disorder A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia Importance of glycosylation on function of a potassium channel in neuroblastoma cells Activation of conventional kinesin motors in clusters by Shaw voltage-gated K+ channels.Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Rescue of motor coordination by Purkinje cell-targeted restoration of Kv3.3 channels in Kcnc3-null mice requires Kcnc1.Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein Mechanisms of sustained high firing rates in two classes of vestibular nucleus neurons: differential contributions of resurgent Na, Kv3, and BK currents.Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.Berberine chloride can ameliorate the spatial memory impairment and increase the expression of interleukin-1beta and inducible nitric oxide synthase in the rat model of Alzheimer's disease A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.Mutations in KCND3 cause spinocerebellar ataxia type 22.Dendritic Kv3.3 potassium channels in cerebellar purkinje cells regulate generation and spatial dynamics of dendritic Ca2+ spikes.Disruption of the olivo-cerebellar circuit by Purkinje neuron-specific ablation of BK channels Brain pathology of spinocerebellar ataxias.Genes and genetic testing in hereditary ataxias.Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia Maturation of membrane properties of neurons in the rat deep cerebellar nuclei A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.Exome sequencing in undiagnosed inherited and sporadic ataxias RNA polymerase III drives alternative splicing of the potassium channel-interacting protein contributing to brain complexity and neurodegeneration First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

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Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

http://www.wikidata.org/entity/Q28299239

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2006 nî lūn-bûn

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2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2006 թվականի ապրիլին հրատարակված գիտական հոդված

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2006年の論文

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Nature Genetics

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Mutations in voltage-gated pot ...... tral nervous system phenotypes

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Allan F Mock

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Dagmar Nolte

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Diane M Papazian

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Dominic B Fee

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John P A Bannister

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Karla P Figueroa

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Michael F Waters

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Natali A Minassian

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Stefan M Pulst

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Ulrich Müller

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P2860

Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

Susceptibility of cloned K+ channels to reactive oxygen species

Neurological channelopathies.

Kv3.3 potassium channels in lens epithelium and corneal endothelium.

Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing.

Up-regulation of the Kv3.4 potassium channel subunit in early stages of Alzheimer's disease.

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

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10.1038/NG1758

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4

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38

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Giovanni Stevanin

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2006-04-01T00:00:00Z

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7275178

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