A new model to study neurodegeneration in ataxia oculomotor apraxia type 2 (Q36089379)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26231220%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2 (English)

1 reference

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20 February 2020

1 reference

1 reference

3

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20 February 2020

Ernst Wolvetang

10

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20 February 2020

author name string

Olivier J Becherel

1

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20 February 2020

Jane Sun

2

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20 February 2020

Sam Nayler

4

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20 February 2020

Brent L Fogel

5

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20 February 2020

Fuying Gao

6

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20 February 2020

Giovanni Coppola

7

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20 February 2020

Chiara Criscuolo

8

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20 February 2020

Giuseppe De Michele

9

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20 February 2020

Martin F Lavin

11

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20 February 2020

publication date

30 July 2015

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20 February 2020

published in

Human Molecular Genetics

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20 February 2020

volume

24

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20 February 2020

issue

20

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20 February 2020

page(s)

5759-5774

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describes a project that uses

20 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4581605/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

limma

1 reference

22 June 2022

https://europepmc.org/article/PMC/4581605

based on heuristic

inferred from PubMed Central ID database lookup

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Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

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The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration

2 October 2017

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DNA strand break repair and neurodegeneration

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2 October 2017

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Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype

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Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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2 October 2017

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

2 October 2017

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2 October 2017

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Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

2 October 2017

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Basic FGF and suppression of BMP signaling sustain undifferentiated proliferation of human ES cells

2 October 2017

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limmaGUI: a graphical user interface for linear modeling of microarray data

2 October 2017

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

2 October 2017

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Identification of BAIAP2 (BAI-associated protein 2), a novel human homologue of hamster IRSp53, whose SH3 domain interacts with the cytoplasmic domain of BAI1

2 October 2017

1 reference

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Initiation of mitochondrial DNA replication by transcription and R-loop processing

2 October 2017

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DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139

2 October 2017

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Characterization of monoclonal antibody to DNA.RNA and its application to immunodetection of hybrids

2 October 2017

1 reference

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Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells.

2 October 2017

1 reference

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DNA topoisomerase II is dispensable for oocyte meiotic resumption but is essential for meiotic chromosome condensation and separation in mice.

23 September 2018

1 reference

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581605

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581605

Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.

23 September 2018

1 reference

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Longitudinal system-based analysis of transcriptional responses to type I interferons

23 September 2018

1 reference

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QKI expression is regulated during neuron-glial cell fate decisions.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581605

Inflammasomes in carcinogenesis and anticancer immune responses

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV296

Senataxin controls meiotic silencing through ATR activation and chromatin remodeling.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV296

Nuclear Factor One Transcription Factors in CNS Development

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV296

21 January 2018

Identifiers

DOI

10.1093/HMG/DDV296

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26231220%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26231220%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

26231220

1 reference