Molecular pathogenesis of spinocerebellar ataxia type 6. (Q36774733)

16 August 2017

Molecular pathogenesis of spinocerebellar ataxia type 6. (English)

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16 August 2017

spinocerebellar ataxia

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Holly B Kordasiewicz

1

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PubMed ID

17395139

16 August 2017

Christopher M Gomez

series ordinal

2

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16 August 2017

1 April 2007

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16 August 2017

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16 August 2017

4

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16 August 2017

2

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16 August 2017

285-294

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https://scigraph.springernature.com/pub.10.1016/j.nurt.2007.01.003

16 August 2017

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cites work

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

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

21 January 2018

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Calcium channels and channelopathies of the central nervous system

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Polyglutamines placed into context

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Beyond the Qs in the polyglutamine diseases

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Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders

21 January 2018

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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

21 January 2018

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Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

21 January 2018

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Spinocerebellar ataxia type 6: MRI of three Japanese patients.

21 January 2018

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Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

21 January 2018

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Structure and regulation of voltage-gated Ca2+ channels

21 January 2018

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Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function.

21 January 2018

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Localization of P-type calcium channels in the central nervous system

21 January 2018

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Immunocytochemical localization of the alpha 1A subunit of the P/Q-type calcium channel in the rat cerebellum.

21 January 2018

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P-type calcium channels in rat central and peripheral neurons

21 January 2018

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Voltage-Dependent Calcium Conductances in Mammalian Neurons

21 January 2018

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Primary structure and functional expression from complementary DNA of a brain calcium channel

21 January 2018

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Ca2+ channels: diversity of form and function

21 January 2018

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Calmodulin bifurcates the local Ca2+ signal that modulates P/Q-type Ca2+ channels.

21 January 2018

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Ca2+/calmodulin binds to and modulates P/Q-type calcium channels

21 January 2018

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Association of neuronal calcium channels with modular adaptor proteins

21 January 2018

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Differential interactions of the C terminus and the cytoplasmic I-II loop of neuronal Ca2+ channels with G-protein alpha and beta gamma subunits. I. Molecular determination

21 January 2018

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A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit

21 January 2018

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Ataxic mouse mutants and molecular mechanisms of absence epilepsy

21 January 2018

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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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Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia

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

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

1 reference

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

Impairment of the ubiquitin-proteasome system by protein aggregation

21 January 2018

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

Are Huntington's and polyglutamine-based ataxias proteasome storage diseases?

21 January 2018

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

CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

21 January 2018

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Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

21 January 2018

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Diseases of unstable repeat expansion: mechanisms and common principles

21 January 2018

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Caspase-mediated proteolysis of the polyglutamine disease protein ataxin-3.

21 January 2018

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

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease.

21 January 2018

1 reference

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

Caspase 3-cleaved N-terminal fragments of wild-type and mutant huntingtin are present in normal and Huntington's disease brains, associate with membranes, and undergo calpain-dependent proteolysis.

21 January 2018

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

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

21 January 2018

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

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

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

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

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

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

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

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

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

Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse.

21 January 2018

1 reference

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

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

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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

1 reference

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

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Dissection of a nuclear localization signal

21 January 2018

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

Alzheimer's disease is a synaptic failure

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Evidence for a 95 kDa short form of the alpha1A subunit associated with the omega-conotoxin MVIIC receptor of the P/Q-type Ca2+ channels

21 January 2018

1 reference

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

1 reference

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

1 reference

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

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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.

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12 December 2020

Molecular epidemiology of spinocerebellar ataxia type 6

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

1 reference

PubMed ID

17395139

Dimensions Publication ID

16 August 2017

0 references

1 reference

PubMed ID

17395139