Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
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Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surfaceKCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular traffickingFunctional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia casesTherapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant mannerKv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelKv3.3 potassium channels and spinocerebellar ataxia.Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.Kv3 Channels: Enablers of Rapid Firing, Neurotransmitter Release, and Neuronal Endurance.In Vivo Analysis of Potassium Channelopathies: Loose Patch Recording of Purkinje Cell Firing in Living, Awake Zebrafish.Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.
P2860
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P2860
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
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2012 nî lūn-bûn
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Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@en
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
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label
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@en
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@nl
prefLabel
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@en
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@nl
P2093
P2860
P1476
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
@en
P2093
Diane M Papazian
Meng-Chin A Lin
Natali A Minassian
P2860
P304
P356
10.1113/JPHYSIOL.2012.228205
P407
P577
2012-01-30T00:00:00Z