Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage (Q34022711)

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18 March 2020

title

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage (English)

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18 March 2020

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3

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18 March 2020

author name string

Ricardo H Roda

1

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18 March 2020

Carlo Rinaldi

2

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18 March 2020

Alice B Schindler

4

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18 March 2020

Craig Blackstone

5

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18 March 2020

publication date

6 May 2014

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Journal of Clinical Neuroscience

18 March 2020

published in

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18 March 2020

volume

21

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18 March 2020

issue

9

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18 March 2020

page(s)

1627-1631

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Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

18 March 2020

cites work

1 reference

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Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

5 July 2018

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Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

5 July 2018

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New autosomal recessive cerebellar ataxias with oculomotor apraxia

5 July 2018

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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

5 July 2018

1 reference

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Ataxia-telangiectasia, an evolving phenotype

5 July 2018

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Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing

5 July 2018

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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

5 July 2018

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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

5 July 2018

1 reference

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Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

5 July 2018

1 reference

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Phenotypic variability of aprataxin gene mutations

5 July 2018

1 reference

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

5 July 2018

1 reference

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Emerging applications of the single cell gel electrophoresis (Comet) assay. I. Management of invasive transitional cell human bladder carcinoma. II. Fluorescent in situ hybridization Comets for the identification of damaged and repaired DNA sequence

5 July 2018

1 reference

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A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

5 July 2018

1 reference

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

5 July 2018

1 reference

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A simple technique for quantitation of low levels of DNA damage in individual cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

29 October 2018

1 reference

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Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4127342

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

29 October 2018

1 reference

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Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein

29 October 2018

1 reference

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Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

29 October 2018

1 reference

12 December 2020

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein

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12 December 2020

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

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12 December 2020

[Autosomal recessive cerebellar ataxias with oculomotor apraxia]

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12 December 2020

10.1016/J.JOCN.2013.11.048

Identifiers

DOI

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18 March 2020

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18 March 2020

PubMed publication ID

24814856

1 reference

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