Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. (Q33801655)

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English	Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.	scientific article

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30 January 2020

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans (English)

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spinocerebellar ataxia type 5

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Alastair R. Lyndon

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30 January 2020

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30 January 2020

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Emma M Perkins

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Yvonne L Clarkson

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Nancy Sabatier

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David M Longhurst

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Christopher P Millward

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Jennifer Jack

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Junko Toraiwa

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30 January 2020

Mitsunori Watanabe

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Jeffrey D Rothstein

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30 January 2020

Mayank B Dutia

12

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Mandy Jackson

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1 April 2010

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30 January 2020

Journal of Neuroscience

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30 January 2020

4857-4867

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30 January 2020

Evolution of spectrin function in cytoskeletal and membrane networks

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28 July 2018

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

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28 July 2018

Kv3.3 channels at the Purkinje cell soma are necessary for generation of the classical complex spike waveform

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28 July 2018

Spinocerebellar ataxias: an update

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28 July 2018

Axons break in animals lacking beta-spectrin

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28 July 2018

Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits

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Molecular pathogenesis of spinocerebellar ataxias.

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28 July 2018

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

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28 July 2018

Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia

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28 July 2018

Spectrin mutations cause spinocerebellar ataxia type 5.

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28 July 2018

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

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28 July 2018

Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency

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28 July 2018

Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred.

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28 July 2018

RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways

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The role of glial glutamate transporters in maintaining the independent operation of juvenile mouse cerebellar parallel fibre synapses.

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28 July 2018

[Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier

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28 July 2018

Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments

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28 July 2018

beta III spectrin binds to the Arp1 subunit of dynactin

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28 July 2018

Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins

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Nonapoptotic neurodegeneration in a transgenic mouse model of Huntington's disease

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

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28 July 2018

Ionic currents underlying spontaneous action potentials in isolated cerebellar Purkinje neurons.

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28 July 2018

A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles

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Motor discoordination and increased susceptibility to cerebellar injury in GLAST mutant mice

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A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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28 July 2018

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

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28 July 2018

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

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Sodium inactivation mechanism modulates QX-314 block of sodium channels in squid axons

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28 July 2018

Properties and expression of Kv3 channels in cerebellar Purkinje cells.

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Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport.

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Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells.

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30 October 2018

Glutamate transporters GLAST and EAAT4 regulate postischemic Purkinje cell death: an in vivo study using a cardiac arrest model in mice lacking GLAST or EAAT4.

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Interaction of Kv3 potassium channels and resurgent sodium current influences the rate of spontaneous firing of Purkinje neurons.

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Roles of glial glutamate transporters in shaping EPSCs at the climbing fiber-Purkinje cell synapses

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30 October 2018

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

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Differential roles of glial and neuronal glutamate transporters in Purkinje cell synapses.

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Presynaptic spectrin is essential for synapse stabilization

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Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease

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Functional analysis of glutamate transporters in excitatory synaptic transmission of GLAST1 and GLAST1/EAAC1 deficient mice

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30 October 2018

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

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30 October 2018

Roles of glutamate transporters in shaping excitatory synaptic currents in cerebellar Purkinje cells

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Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia

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30 October 2018

Fragmentation of the Golgi apparatus. A role for beta III spectrin and synthesis of phosphatidylinositol 4,5-bisphosphate

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30 October 2018

Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

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30 October 2018

Resurgent sodium current and action potential formation in dissociated cerebellar Purkinje neurons.

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12 December 2020

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Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy

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12 December 2020

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Clinical and MRI findings in spinocerebellar ataxia type 5

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https://pubmed.ncbi.nlm.nih.gov/20371805

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Mechanisms of AMPA Neurotoxicity in Rat Brain Slices

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10.1523/JNEUROSCI.6065-09.2010

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30 January 2020

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30 January 2020

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30 January 2020

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