(Q34001971)

30 July 2017

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title

Linking DNA damage and neurodegeneration (English)

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30 July 2017

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Rolig RL

1

1 reference

PubMed ID

10941191

30 July 2017

McKinnon PJ

series ordinal

2

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PubMed ID

10941191

30 July 2017

language of work or name

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1 September 2000

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30 July 2017

Trends in Neurosciences

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30 July 2017

23

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30 July 2017

417-424

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30 July 2017

9

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The genetic defect in ataxia-telangiectasia

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

DNA damage-induced cell cycle checkpoints and DNA strand break repair in development and tumorigenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The controlling role of ATM in homologous recombinational repair of DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphoma

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

ATM: a mediator of multiple responses to genotoxic stress

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The role of ATM in DNA damage responses and cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Absence of mutations in ATM , the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress?

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. Version 4.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Nijmegen breakage syndrome: consequences of defective DNA double strand break repair

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The Nijmegen breakage syndrome protein is essential for Mre11 phosphorylation upon DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Transcription-coupled repair deficiency and mutations in human mismatch repair genes

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

hRAD30 mutations in the variant form of xeroderma pigmentosum

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Base excision repair of oxidative DNA damage activated by XPG protein

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Cockayne syndrome: Review of 140 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

1 reference

7 January 2021

Evidence for at least eight Fanconi anemia genes

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Molecular genetics of Bloom's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

WRN mutations in Werner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Excision repair defect in Rothmund Thomson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Aging-associated neuropathology in Werner syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Defending genome integrity during DNA replication: a proposed role for RecQ family helicases

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

DNA helicases in inherited human disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Werner syndrome protein. II. Characterization of the integral 3' --> 5' DNA exonuclease

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Functional and physical interaction between WRN helicase and human replication protein A

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The Werner syndrome protein is involved in RNA polymerase II transcription

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Characterization of Werner syndrome protein DNA helicase activity: directionality, substrate dependence and stimulation by replication protein A

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The Bloom's syndrome helicase unwinds G4 DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Human werner syndrome DNA helicase unwinds tetrahelical structures of the fragile X syndrome repeat sequence d(CGG)n

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Defective embryonic neurogenesis in Ku-deficient but not DNA-dependent protein kinase catalytic subunit-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

The recombination activating gene-1 (RAG-1) transcript is present in the murine central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Detection of somatic DNA recombination in the transgenic mouse brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Rapid accumulation of genome rearrangements in liver but not in brain of old mice

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Detection of excision nuclease in cell-free extracts from the adult mammalian brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

DNA mismatch repair and DNA methylation in adult brain neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Cancer-susceptibility genes. Gatekeepers and caretakers

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

ATM binds to beta-adaptin in cytoplasmic vesicles

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Essential roles for the Abl and Arg tyrosine kinases in neurulation

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

Neonatal lethality with abnormal neurogenesis in mice deficient in DNA polymerase beta

1 reference

https://api.crossref.org/works/10.1016%2FS0166-2236%2800%2901625-8

7 January 2021

10.1016/S0166-2236(00)01625-8

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

10941191