(Q37746495)

English

Nuclear ataxias.

scientific article published on May 2010

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scholarly article

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Europe PubMed Central

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2 February 2020

1 reference

Europe PubMed Central

Nuclear ataxias (English)

1 reference

Europe PubMed Central

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2 February 2020

1

1 reference

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2 February 2020

author name string

Harry T Orr

1

1 reference

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22 August 2017

publication date

1 May 2010

1 reference

Europe PubMed Central

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2 February 2020

Cold Spring Harbor Perspectives in Biology

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20452956%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

2

1 reference

Europe PubMed Central

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2 February 2020

5

1 reference

Europe PubMed Central

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2 February 2020

a000786

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20452956%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Secondary Structure of Huntingtin Amino-Terminal Region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Cajal's contribution to the knowledge of the neuronal cell nucleus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The nuclear DNA base 5-hydroxymethylcytosine is present in Purkinje neurons and the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Functional integration of transcriptional and RNA processing machineries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Regulation of dendritic development by neuron-specific chromatin remodeling complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Defective DNA repair and neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Cell cycle regulation in the postmitotic neuron: oxymoron or new biology?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Trinucleotide Repeat Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The general transcription machinery and general cofactors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The genetics of neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Diseases of unstable repeat expansion: mechanisms and common principles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Breaks in coordination: DNA repair in inherited ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

RNA association and nucleocytoplasmic shuttling by ataxin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Protein aggregation and neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Pathways to motor incoordination: the inherited ataxias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The structure of the AXH domain of spinocerebellar ataxin-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Nuclear and unclear functions of SUMO

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Coupling transcription, splicing and mRNA export

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

The Mre11 complex: at the crossroads of dna repair and checkpoint signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

An extensive network of coupling among gene expression machines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Multifunctional regulatory proteins that control gene expression in both the nucleus and the cytoplasm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Beyond the Qs in the polyglutamine diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

A role for TBP dimerization in preventing unregulated gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

ATM associates with and phosphorylates p53: mapping the region of interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Enhanced phosphorylation of p53 by ATM in response to DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Coiled bodies and gems: Janus or gemini?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Atm-deficient mice: a paradigm of ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Disruption of the nuclear hormone receptor RORalpha in staggerer mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Effects of an Rb mutation in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

Photoreceptor degeneration induced by the expression of simian virus 40 large tumor antigen in the retina of transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

22 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

14 September 2017

Loss of Rb activates both p53-dependent and independent cell death pathways in the developing mouse nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

28 September 2017

Susceptibility to cell death induced by mutant SV40 T-antigen correlates with Purkinje neuron functional development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

23 June 2018

Disrupted cerebellar cortical development and progressive degeneration of Purkinje cells in SV40 T antigen transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

23 June 2018

Requirement for a functional Rb-1 gene in murine development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

23 June 2018

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

The centennial of the Cajal body.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

DNA replication-dependent nuclear dynamics of the Mre11 complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

The transcription factor E2F-1 in SV40 T antigen-induced cerebellar Purkinje cell degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

1 September 2018

Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2857172

3 December 2018

In vivo viability of postmitotic Purkinje neurons requires pRb family member function

1 reference

https://pubmed.ncbi.nlm.nih.gov/20452956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20452956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation of E2f-1 suppresses apoptosis and inappropriate S phase entry and extends survival of Rb-deficient mouse embryos

1 reference

https://pubmed.ncbi.nlm.nih.gov/20452956

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/CSHPERSPECT.A000786

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20452956%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20452956%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20452956%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

ResearchGate publication ID

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