Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. (Q37140745)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

review article

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title

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1 (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

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spinocerebellar ataxia

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

Paola Giunti

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Robert Goold

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

publication date

1 January 2008

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

volume

7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

106-114

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice

5 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007/S12311-008-0009-0

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S12311-008-0009-0

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007/S12311-008-0009-0

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.

21 January 2018

1 reference

12 December 2020

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

1 reference

12 December 2020

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3

1 reference

12 December 2020

p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product

1 reference

12 December 2020

CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation

1 reference

12 December 2020

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

1 reference

12 December 2020

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract

1 reference

12 December 2020

The AXH module: an independently folded domain common to ataxin-1 and HBP1

1 reference

12 December 2020

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

1 reference

12 December 2020

Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors

1 reference

12 December 2020

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.

1 reference

12 December 2020

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

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12 December 2020

The AXH domain adopts alternative folds the solution structure of HBP1 AXH.

1 reference

12 December 2020

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

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12 December 2020

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

1 reference

12 December 2020

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

1 reference

12 December 2020

A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

1 reference

12 December 2020

HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds

1 reference

12 December 2020

Mapping cerebral blood flow during speech production in hereditary ataxia

1 reference

12 December 2020

Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.

1 reference

12 December 2020

Topographic brain mapping of the international cooperative ataxia rating scale. A positron emission tomography study

1 reference

12 December 2020

Retinoic acid and hindbrain patterning

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12 December 2020

Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.

1 reference

12 December 2020

Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death

1 reference

12 December 2020

RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.

1 reference

12 December 2020

Dopamine receptor signaling

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12 December 2020

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

1 reference

12 December 2020

The structure of the AXH domain of spinocerebellar ataxin-1

1 reference

12 December 2020

The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins

1 reference

12 December 2020

Motor and associative deficits in D2 dopamine receptor knockout mice

1 reference

12 December 2020

SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal

1 reference

12 December 2020

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

1 reference

12 December 2020

Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs

1 reference

12 December 2020

Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study

1 reference

12 December 2020

Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice

1 reference

12 December 2020

RNA association and nucleocytoplasmic shuttling by ataxin-1

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12 December 2020

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).

1 reference

12 December 2020

The Purkinje cell in olivopontocerebellar atrophy. A Golgi and immunocytochemical study

1 reference

12 December 2020

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

12 December 2020

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

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12 December 2020

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

1 reference

12 December 2020

Molecular pathogenesis of spinocerebellar ataxias.

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12 December 2020

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

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12 December 2020

Phenotypic effects of expanded ataxin-1 polyglutamines with interruptions in vitro

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12 December 2020

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

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12 December 2020

USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3

1 reference

12 December 2020

WNTs in the vertebrate nervous system: from patterning to neuronal connectivity

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12 December 2020

Diseases of unstable repeat expansion: mechanisms and common principles

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12 December 2020

Identification of a self-association region within the SCA1 gene product, ataxin-1

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

1 reference

12 December 2020

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

12 December 2020

Negative regulation of the Wnt-beta-catenin pathway by the transcriptional repressor HBP1

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12 December 2020

10.1007/S12311-008-0009-0

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18418661 AND SRC:MED&resulttype=core&format=json

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5 January 2020

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24 November 2022

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