DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors (Q38231252)

31 August 2017

title

DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors (English)

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31 August 2017

Edward C Gilmore

1

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31 August 2017

publication date

20 July 2014

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31 August 2017

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31 August 2017

volume

15

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31 August 2017

issue

4

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31 August 2017

page(s)

217-228

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Progressive familial choreoathetosis with cutaneous telangiectasia

31 August 2017

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21 January 2018

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21 January 2018

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21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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21 January 2018

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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

21 January 2018

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DNA repair deficiency and neurological disease

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The MRN complex in double-strand break repair and telomere maintenance

21 January 2018

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Beyond ATM: the protein kinase landscape of the DNA damage response

21 January 2018

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To live or to die: a matter of processing damaged DNA termini in neurons

21 January 2018

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Regulatory networks integrating cell cycle control with DNA damage checkpoints and double-strand break repair

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DNA repair deficiency in neurodegeneration.

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ATM and the molecular pathogenesis of ataxia telangiectasia

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The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

21 January 2018

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

21 January 2018

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Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

21 January 2018

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21 January 2018

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Human Tdp1 cleaves a broad spectrum of substrates, including phosphoamide linkages

21 January 2018

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AP-site cleavage activity of tyrosyl-DNA phosphodiesterase 1.

21 January 2018

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21 January 2018

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XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair

21 January 2018

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Association of XRCC1 and tyrosyl DNA phosphodiesterase (Tdp1) for the repair of topoisomerase I-mediated DNA lesions

21 January 2018

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Xrcc4 physically links DNA end processing by polynucleotide kinase to DNA ligation by DNA ligase IV

21 January 2018

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21 January 2018

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

21 January 2018

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Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation

21 January 2018

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Role of senataxin in DNA damage and telomeric stability.

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Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination

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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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Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes

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Mutational fingerprints of aging

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Mitochondrial DNA damage is a hallmark of chemically induced and the R6/2 transgenic model of Huntington's disease

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The role of DNA repair in brain related disease pathology

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Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases

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Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice

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Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis

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Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells

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Mitochondrial dysfunction in ataxia-telangiectasia

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12 December 2020

Peculiar lesions in Louis-Bar ataxia-telangiectasia. Nucleo-cytoplasmic malformations at the level of ganglionic neuroglia and in a certain number of visceral organs

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Cerebellar cortex ultrastructure in ataxia-telangiectasia

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Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34

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Pathological observations in ataxia-telangiectasia. A report of five cases

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12 December 2020

Granule cell as a site of gene action in the weaver mouse cerebellum: evidence from heterozygous mutant chimeras

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The incidence and gene frequency of ataxia-telangiectasia in the United States

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Ataxia, telangiectasia, and sinopulmonary infections; a syndrome of slowly progressive deterioration in childhood

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Eye movements in ataxia-telangiectasia

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12 December 2020

Atm knock-in mice harboring an in-frame deletion corresponding to the human ATM 7636del9 common mutation exhibit a variant phenotype

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12 December 2020

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

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12 December 2020

The mechanism of human tyrosyl-DNA phosphodiesterase 1 in the cleavage of AP site and its synthetic analogs.

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12 December 2020

Radiation reaction in ataxia telangiectasia

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12 December 2020

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

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12 December 2020

Ocular motor abnormalities in ataxia telangiectasia

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12 December 2020

A nervous predisposition to unrepaired DNA double strand breaks

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12 December 2020

Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis

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12 December 2020

Single-strand break repair and genetic disease

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12 December 2020

Mutations associated with variant phenotypes in ataxia-telangiectasia

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12 December 2020

10.1007/S10048-014-0415-Z

Identifiers

DOI

1 reference

31 August 2017

1 reference