(Q24290184)

GOA release 2020-03-11

Ataxin 2

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GOA release 2020-03-11

author name string

D P Huynh

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K Figueroa

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N Hoang

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S M Pulst

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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language of work or name

English

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publication date

September 2000

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44-50

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cites work

1 reference

7 January 2021

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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7 January 2021

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

1 reference

7 January 2021

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

7 January 2021

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

1 reference

7 January 2021

Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.

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7 January 2021

Heterogeneous intracellular localization and expression of ataxin-3.

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7 January 2021

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions

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7 January 2021

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.

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7 January 2021

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

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7 January 2021

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

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7 January 2021

Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

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7 January 2021

Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo

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7 January 2021

Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone

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7 January 2021

Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA.

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7 January 2021

Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold

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7 January 2021

Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology.

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7 January 2021

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

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7 January 2021

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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7 January 2021

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

1 reference

7 January 2021

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

1 reference

7 January 2021

Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.

1 reference

7 January 2021

Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study

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7 January 2021

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

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7 January 2021

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

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7 January 2021

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

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7 January 2021

From neuronal inclusions to neurodegeneration: neuropathological investigation of a transgenic mouse model of Huntington's disease

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7 January 2021

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

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7 January 2021

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.

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7 January 2021

Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments

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7 January 2021

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration.

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7 January 2021

Caspase-8 is required for cell death induced by expanded polyglutamine repeats.

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7 January 2021

Mutant huntingtin expression in clonal striatal cells: dissociation of inclusion formation and neuronal survival by caspase inhibition.

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7 January 2021

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract

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7 January 2021

Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice

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7 January 2021

The Purkinje cell and its afferents in human hereditary ataxia

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7 January 2021

Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

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7 January 2021

Characterization and dynamics of aggresome formation by a cytosolic GFP-chimera

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7 January 2021

Aggresomes: a cellular response to misfolded proteins

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7 January 2021

A novel protein with RNA-binding motifs interacts with ataxin-2

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7 January 2021

Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

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7 January 2021

Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes

1 reference

7 January 2021