Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency (Q27312602)

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20 February 2020

title

Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency (English)

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20 February 2020

4

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20 February 2020

Maria Tresini

5

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20 February 2020

Gijsbertus van der Horst

13

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20 February 2020

15

Jan H J Hoeijmakers

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20 February 2020

author name string

Sander Barnhoorn

1

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20 February 2020

Lieneke M Uittenboogaard

2

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20 February 2020

Dick Jaarsma

3

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20 February 2020

Michael Weymaere

6

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20 February 2020

Hervé Menoni

7

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20 February 2020

Renata M C Brandt

8

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20 February 2020

Monique C de Waard

9

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20 February 2020

Sander M Botter

10

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20 February 2020

Altaf H Sarker

11

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20 February 2020

Nicolaas G J Jaspers

12

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20 February 2020

Priscilla K Cooper

14

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20 February 2020

Ingrid van der Pluijm

16

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20 February 2020

language of work or name

English

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publication date

9 October 2014

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20 February 2020

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20 February 2020

volume

10

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20 February 2020

issue

10

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20 February 2020

page(s)

e1004686

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Creative Commons CC0 License

20 February 2020

copyright license

start time

9 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

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cites work

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Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair

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Delayed and accelerated aging share common longevity assurance mechanisms

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Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

21 March 2017

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Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice

21 March 2017

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Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice

21 March 2017

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Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome

21 March 2017

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Human NTH1 physically interacts with p53 and proliferating cell nuclear antigen

21 March 2017

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Nucleotide excision repair 3' endonuclease XPG stimulates the activity of base excision repairenzyme thymine glycol DNA glycosylase

21 March 2017

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

21 March 2017

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A new mathematical model for relative quantification in real-time RT-PCR

21 March 2017

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Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome

21 March 2017

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21 March 2017

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XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4

21 March 2017

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Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

21 March 2017

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Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease

21 March 2017

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ERCC1-XPF endonuclease facilitates DNA double-strand break repair

21 March 2017

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

21 March 2017

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles

21 March 2017

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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

21 March 2017

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Impaired liver regeneration in Nrf2 knockout mice: role of ROS-mediated insulin/IGF-1 resistance

21 March 2017

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Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice

21 March 2017

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Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage

21 March 2017

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Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method

21 March 2017

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Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase

21 March 2017

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Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence

21 March 2017

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21 March 2017

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Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome

21 March 2017

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Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF

21 March 2017

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Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice

21 March 2017

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Premature aging in mice deficient in DNA repair and transcription

21 March 2017

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Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene

21 March 2017

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Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

21 March 2017

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Cell survival responses to environmental stresses via the Keap1-Nrf2-ARE pathway

21 March 2017

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Aging: not all DNA damage is equal

7 April 2017

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Understanding nucleotide excision repair and its roles in cancer and ageing.

28 September 2017

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Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria

28 September 2017

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Comet-FISH with strand-specific probes reveals transcription-coupled repair of 8-oxoGuanine in human cells

28 September 2017

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Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease

28 September 2017

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ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair

28 September 2017

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Cockayne syndrome pathogenesis: lessons from mouse models

28 September 2017

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Spatio-temporal analysis of molecular determinants of neuronal degeneration in the aging mouse cerebellum

28 September 2017

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Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription

28 September 2017

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Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

28 September 2017

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Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

28 September 2017

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Nucleotide excision repair-initiating proteins bind to oxidative DNA lesions in vivo

28 September 2017

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Review: Axon pathology in age-related neurodegenerative disorders

28 September 2017

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XPG and XPF endonucleases trigger chromatin looping and DNA demethylation for accurate expression of activated genes

28 September 2017

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Multiple DNA binding domains mediate the function of the ERCC1-XPF protein in nucleotide excision repair

28 September 2017

1 reference

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Shining a light on xeroderma pigmentosum

28 September 2017

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28 September 2017

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A mouse model of accelerated liver aging caused by a defect in DNA repair

28 September 2017

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Targeted detection of in vivo endogenous DNA base damage reveals preferential base excision repair in the transcribed strand

28 September 2017

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Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy mice

28 September 2017

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The role of XPC: implications in cancer and oxidative DNA damage

28 September 2017

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The xeroderma pigmentosum pathway: decision tree analysis of DNA quality

28 September 2017

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A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.

28 September 2017

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Regulation of endonuclease activity in human nucleotide excision repair

28 September 2017

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The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome

28 September 2017

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Preferential repair of oxidized base damage in the transcribed genes of mammalian cells

28 September 2017

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Accelerated aging of intervertebral discs in a mouse model of progeria.

28 September 2017

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Trichothiodystrophy: from basic mechanisms to clinical implications

28 September 2017

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

28 September 2017

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Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

28 September 2017

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Persistent transcription-blocking DNA lesions trigger somatic growth attenuation associated with longevity

28 September 2017

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Coordination of dual incision and repair synthesis in human nucleotide excision repair

28 September 2017

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The role of Galectin-3/MAC-2 in the activation of the innate-immune function of phagocytosis in microglia in injury and disease

28 September 2017

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XPG: its products and biological roles

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Neurological symptoms and natural course of xeroderma pigmentosum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Nucleotide excision repair deficient mouse models and neurological disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Impaired genome maintenance suppresses the growth hormone--insulin-like growth factor 1 axis in mice with Cockayne syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

New functions of XPC in the protection of human skin cells from oxidative damage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Tissue specific mutagenic and carcinogenic responses in NER defective mouse models

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Correction of liver dysfunction in DNA repair-deficient mice with an ERCC1 transgene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Neurodegeneration in hereditary nucleotide repair disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Regulation of p53 downstream genes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR).

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Brain vascular changes in Cockayne syndrome.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Emerging links between premature ageing and defective DNA repair

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

A transgenic mouse line that retains Cre recombinase activity in mature oocytes irrespective of the cre transgene transmission

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4191938

Accelerated age-related cognitive decline and neurodegeneration, caused by deficient DNA repair.

31 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Neuroimaging in Cockayne syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Dorsal telencephalon-specific expression of Cre recombinase in PAC transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Synaptic proteome changes in a DNA repair deficient ercc1 mouse model of accelerated aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

An in vivo analysis of MMC-induced DNA damage and its repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Oxidative stress in cell culture: an under-appreciated problem?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Efficient FLP recombination in mouse ES cells and oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004686

Database of mouse strains carrying targeted mutations in genes affecting biological responses to DNA damage Version 7

21 January 2018

1 reference

12 December 2020

DNA repair: From molecular mechanism to human disease

1 reference

12 December 2020

ADAMTS5-/- mice have less subchondral bone changes after induction of osteoarthritis through surgical instability: implications for a link between cartilage and subchondral bone changes

1 reference

12 December 2020

Corticospinal control during reach, grasp, and precision lift in man

1 reference

12 December 2020

An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype

1 reference

12 December 2020

A comprehensive description of the severity groups in Cockayne syndrome

1 reference

12 December 2020

Characterization of premature liver polyploidy in DNA repair (Ercc1)-deficient mice

1 reference

12 December 2020

An improved segmentation method for in vivo microCT imaging

1 reference

12 December 2020

Base excision repair of oxidative DNA damage activated by XPG protein

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1004686

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25299392%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25299392%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

25299392

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25299392%20AND%20SRC:MED&resulttype=core&format=json