Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy (Q35565116)

8 August 2017

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title

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy (English)

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spinocerebellar ataxia type 7

8 August 2017

main subject

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Christine Van Broeckhoven

inferred from title

author

series ordinal

3

object named as

Van Broeckhoven C

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8 August 2017

Michalik A

1

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8 August 2017

Martin JJ

series ordinal

2

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8 August 2017

publication date

1 January 2004

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European Journal of Human Genetics

8 August 2017

published in

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8 August 2017

volume

12

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8 August 2017

issue

1

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8 August 2017

page(s)

2-15

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The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

8 August 2017

cites work

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families

21 January 2018

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Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

21 January 2018

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Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Trinucleotide repeat expansion in neurological disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Glutamine repeats and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Toward an understanding of polyglutamine neurodegeneration

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Huntington's disease: the challenge for cell biologists

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

When more is less: pathogenesis of glutamine repeat neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Nuclear targeting of mutant Huntingtin increases toxicity

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Polyglutamine aggregation behavior in vitro supports a recruitment mechanism of cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

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/10.1038%2FSJ.EJHG.5201108

Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Conserved Phosphoprotein Interaction Motif Is Functionally Interchangeable between Ataxin-7 and Arrestins†

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

An expanded CAG repeat sequence in spinocerebellar ataxia type 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Distribution of ataxin-7 in normal human brain and retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Definition of the smallest pathological CAG expansion in SCA7

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201108

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201108

1 reference

8 August 2017

1 reference