Kv3.3 potassium channels and spinocerebellar ataxia

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

(2015) Anna Duarri et al.   PLoS One

Autosomal dominant cerebellar ataxias: a systematic review of clinical features

(2014) M. Rossi et al.   EUROPEAN JOURNAL OF NEUROLOGY

More Than a Pore: Ion Channel Signaling Complexes

(2014) A. Lee et al.   JOURNAL OF NEUROSCIENCE

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

KCNC3R420H, a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking

(2014) Carolina Gallego-Iradi et al.   NEUROBIOLOGY OF DISEASE

Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish

(2014) Jui-Yi Hsieh et al.   Frontiers in Neural Circuits

Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface

(2013) Jian Zhao et al.   BIOCHEMICAL JOURNAL

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

(2013) Tomohiko Irie et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms

(2013) John C. Middlebrooks et al.   PLoS One

Kv3.3b expression defines the shape of the complex spike in the Purkinje cell

(2013) Ken Veys et al.   Frontiers in Cellular Neuroscience

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

(2012) F. A. Issa et al.   Disease Models & Mechanisms

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

(2012) Natali A. Minassian et al.   JOURNAL OF PHYSIOLOGY-LONDON

Kv3.1b and Kv3.3 channel subunit expression in murine spinal dorsal horn GABAergic interneurones

(2011) A. Nowak et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish

(2011) F. A. Issa et al.   JOURNAL OF NEUROSCIENCE

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

(2010) Allan F Mock et al.   BMC NEUROSCIENCE

Precise localization of the voltage-gated potassium channel subunits Kv3.1b and Kv3.3 revealed in the molecular layer of the rat cerebellar cortex by a pre-embedding immunogold method

(2010) Nagore Puente et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Dendritic Kv3.3 Potassium Channels in Cerebellar Purkinje Cells Regulate Generation and Spatial Dynamics of Dendritic Ca2+ Spikes

(2010) Edward Zagha et al.   JOURNAL OF NEUROPHYSIOLOGY

Regulation of Kv channel expression and neuronal excitability in rat medial nucleus of the trapezoid body maintained in organotypic culture

(2010) Huaxia Tong et al.   JOURNAL OF PHYSIOLOGY-LONDON

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

Rescue of Motor Coordination by Purkinje Cell-Targeted Restoration of Kv3.3 Channels in Kcnc3-Null Mice Requires Kcnc1

(2009) E. C. Hurlock et al.   JOURNAL OF NEUROSCIENCE

Protein Kinase C Modulates Inactivation of Kv3.3 Channels

(2008) Rooma Desai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Purkinje-Cell-Restricted Restoration of Kv3.3 Function Restores Complex Spikes and Rescues Motor Coordination in Kcnc3 Mutants

(2008) E. C. Hurlock et al.   JOURNAL OF NEUROSCIENCE

Kv3.3 Channels at the Purkinje Cell Soma Are Necessary for Generation of the Classical Complex Spike Waveform

(2008) E. Zagha et al.   JOURNAL OF NEUROSCIENCE

Subcellular localization of the voltage-gated potassium channels Kv3.1b and Kv3.3 in the cerebellar dentate nucleus of glutamic acid decarboxylase 67–green fluorescent protein transgenic mice

(2008) V. Alonso-Espinaco et al.   NEUROSCIENCE