DNA single-strand break repair is impaired in aprataxin-related ataxia. - Wikidata - awgldk - TriplyDB

DNA single-strand break repair is impaired in aprataxin-related ataxia.

DNA single-strand break repair is impaired in aprataxin-related ataxia.

http://www.wikidata.org/entity/Q33274949

about

CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin Repair of persistent strand breaks in the mitochondrial genome Structure of an aprataxin–DNA complex with insights into AOA1 neurodegenerative disease Radiation cataracts: mechanisms involved in their long delayed occurrence but then rapid progression.XRCC1 coordinates disparate responses and multiprotein repair complexes depending on the nature and context of the DNA damage DNA repair deficiency in neurodegeneration.Polynucleotide kinase as a potential target for enhancing cytotoxicity by ionizing radiation and topoisomerase I inhibitors Neurological disorders associated with DNA strand-break processing enzymes.Aprataxin localizes to mitochondria and preserves mitochondrial function Recognition and repair of chemically heterogeneous structures at DNA ends Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.The region of XRCC1 which harbours the three most common nonsynonymous polymorphic variants, is essential for the scaffolding function of XRCC1 Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.Cellular radiosensitivity: how much better do we understand it?DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.Chronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?Coordination of DNA single strand break repair.Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin.Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts.Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.Triple A syndrome in Japan.Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.Approaches for Identifying Novel Targets in Precision Medicine: Lessons from DNA Repair.Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

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DNA single-strand break repair is impaired in aprataxin-related ataxia.

http://www.wikidata.org/entity/Q33274949

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

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2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

DNA single-strand break repair is impaired in aprataxin-related ataxia.

@ast

DNA single-strand break repair is impaired in aprataxin-related ataxia.

@en

type

label

DNA single-strand break repair is impaired in aprataxin-related ataxia.

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DNA single-strand break repair is impaired in aprataxin-related ataxia.

@en

prefLabel

DNA single-strand break repair is impaired in aprataxin-related ataxia.

@ast

DNA single-strand break repair is impaired in aprataxin-related ataxia.

@en

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P1433

Annals of Neurology

P1476

DNA single-strand break repair is impaired in aprataxin-related ataxia

@en

P2093

Akira Yasui

http://www.w3.org/2001/XMLSchema#string

Aya Yamamoto

http://www.w3.org/2001/XMLSchema#string

Hirohide Asai

http://www.w3.org/2001/XMLSchema#string

Keiji Shimada

http://www.w3.org/2001/XMLSchema#string

Kyoko Imoto

http://www.w3.org/2001/XMLSchema#string

Li Lan

http://www.w3.org/2001/XMLSchema#string

Makito Hirano

http://www.w3.org/2001/XMLSchema#string

Masashi Aoki

http://www.w3.org/2001/XMLSchema#string

Noboru Konishi

http://www.w3.org/2001/XMLSchema#string

Nobuhiko Kobayashi

http://www.w3.org/2001/XMLSchema#string

P2860

Phenotypic variability of aprataxin gene mutations

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations

P304

162-174

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scholarly article

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10.1002/ANA.21078

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2

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61

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Taka-aki Iwamoto

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2007-02-01T00:00:00Z

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17315206

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