Molecular pathogenesis of spinocerebellar ataxia type 6. (Q36774733)

16 August 2017

title

Molecular pathogenesis of spinocerebellar ataxia type 6. (English)

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16 August 2017

main subject

spinocerebellar ataxia

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Holly B Kordasiewicz

1

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16 August 2017

Christopher M Gomez

series ordinal

2

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16 August 2017

publication date

1 April 2007

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16 August 2017

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16 August 2017

volume

4

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16 August 2017

issue

2

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16 August 2017

page(s)

285-294

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Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1

16 August 2017

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Polyglutamines placed into context

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Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

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Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

21 January 2018

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The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

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A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

21 January 2018

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Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

21 January 2018

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Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

21 January 2018

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Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.

21 January 2018

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Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

21 January 2018

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

21 January 2018

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Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.

21 January 2018

1 reference

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Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

21 January 2018

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Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain

21 January 2018

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Aggregate formation inhibits proteasomal degradation of polyglutamine proteins.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Characterization of intracellular aggregates using fluorescently-tagged polyglutamine-expanded androgen receptor

21 January 2018

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Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length

21 January 2018

1 reference

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Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation

21 January 2018

1 reference

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Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin.

21 January 2018

1 reference

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Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity

21 January 2018

1 reference

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Ectopically Expressed CAG Repeats Cause Intranuclear Inclusions and a Progressive Late Onset Neurological Phenotype in the Mouse

21 January 2018

1 reference

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Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Nuclear targeting of mutant Huntingtin increases toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression

21 January 2018

1 reference

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Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

21 January 2018

1 reference

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N-methyl-D-aspartate receptor-induced proteolytic conversion of postsynaptic class C L-type calcium channels in hippocampal neurons

21 January 2018

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C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity

21 January 2018

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Dissection of a nuclear localization signal

21 January 2018

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Nuclear targeting signal recognition: a key control point in nuclear transport?

21 January 2018

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The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

21 January 2018

1 reference

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

21 January 2018

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Androgen-dependent neurodegeneration by polyglutamine-expanded human androgen receptor in Drosophila.

21 January 2018

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Activity-dependent survival and enhanced turnover of calcium in cultured rat cerebellar granule neurons

21 January 2018

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Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.003

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

21 January 2018

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Alzheimer's disease is a synaptic failure

21 January 2018

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Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

21 January 2018

1 reference

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Evidence for a 95 kDa Short Form of the α1ASubunit Associated with the ω-Conotoxin MVIIC Receptor of the P/Q-type Ca2+Channels

21 January 2018

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12 December 2020

Recent advances in the understanding of the role of synaptic proteins in Alzheimer's Disease and other neurodegenerative disorders

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12 December 2020

Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains

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12 December 2020

Voltage-dependent calcium conductances in mammalian neurons. The P channel

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12 December 2020

Activity of voltage-operated calcium channels in rat cerebellar granule neurons and neuronal survival

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12 December 2020

Nuclear import and export pathways

1 reference

12 December 2020

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

1 reference

12 December 2020

Morphological Purkinje cell changes in spinocerebellar ataxia type 6

1 reference

12 December 2020

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine

1 reference

12 December 2020

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

1 reference

12 December 2020

Ion channels and channelopathy

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12 December 2020

C-Terminal alternative splicing changes the gating properties of a human spinal cord calcium channel alpha 1A subunit.

1 reference

12 December 2020

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

1 reference

12 December 2020

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

1 reference

12 December 2020

Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation

1 reference

12 December 2020

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

1 reference

12 December 2020

Molecular epidemiology of spinocerebellar ataxia type 6

1 reference

12 December 2020

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

1 reference

12 December 2020

Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

1 reference

12 December 2020

Pharmacological dissection of multiple types of Ca2+ channel currents in rat cerebellar granule neurons

1 reference

12 December 2020

Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6.

1 reference

12 December 2020

Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice

1 reference

12 December 2020

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

1 reference

12 December 2020

The genetic defect causing Huntington's disease: repeated in other contexts?

1 reference

12 December 2020

Differential proteolysis of the full-length form of the L-type calcium channel alpha 1 subunit by calpain

1 reference

12 December 2020

10.1016/J.NURT.2007.01.003

Identifiers

DOI

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Dimensions Publication ID

16 August 2017

1001301393

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