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Base excision repair capacity in informing healthspan

Published on Dec 1, 2014in Carcinogenesis4.00
· DOI :10.1093/carcin/bgu225
Boris M. Brenerman2
Estimated H-index: 2
(NIH: National Institutes of Health),
Jennifer L. Illuzzi6
Estimated H-index: 6
(NIH: National Institutes of Health),
David M. Wilson48
Estimated H-index: 48
(NIH: National Institutes of Health)
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Abstract
Base excision repair (BER) is a frontline defense mechanism for dealing with many common forms of endogenous DNA damage, several of which can drive mutagenic or cell death outcomes. The pathway engages proteins such as glycosylases, abasic endonucleases, polymerases and ligases to remove substrate modifications from DNA and restore the genome back to its original state. Inherited mutations in genes related to BER can give rise to disorders involving cancer, immunodeficiency and neurodegeneration. Studies employing genetically defined heterozygous (haploinsufficient) mouse models indicate that partial reduction in BER capacity can increase vulnerability to both spontaneous and exposure-dependent pathologies. In humans, measurement of BER variation has been imperfect to this point, yet tools to assess BER in epidemiological surveys are steadily evolving. We provide herein an overview of the BER pathway and discuss the current efforts toward defining the relationship of BER defects with disease susceptibility.
  • References (112)
  • Citations (17)
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References112
Newest
#1Jessica S. Williams (NIH: National Institutes of Health)H-Index: 21
#2Thomas A. Kunkel (NIH: National Institutes of Health)H-Index: 97
#1Alireza G. Senejani (Yale University)H-Index: 9
#2Yanfeng Liu (Yale University)H-Index: 12
Last.Alfred L. M. Bothwell (Yale University)H-Index: 48
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#1Peter Sykora (NIH: National Institutes of Health)H-Index: 16
#2David M. Wilson (NIH: National Institutes of Health)H-Index: 48
Last.Vilhelm A. Bohr (NIH: National Institutes of Health)H-Index: 87
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Cited By17
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#1Mengxia Li (Third Military Medical University)H-Index: 17
#2Xiao Yang (Third Military Medical University)H-Index: 2
Last.Yie Liu (NIH: National Institutes of Health)H-Index: 20
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#1Ruoxi Wang (Northeast Normal University)H-Index: 4
#2Chunshuang Li (Northeast Normal University)H-Index: 1
Last.Istvan BoldoghH-Index: 41
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#1Mayra L. Sottile (CONICET: National Scientific and Technical Research Council)H-Index: 3
#2Silvina B. Nadin (CONICET: National Scientific and Technical Research Council)H-Index: 3
#1Tyler Golato (NIH: National Institutes of Health)
#2Boris M. Brenerman (NIH: National Institutes of Health)H-Index: 2
Last.David M. Wilson (NIH: National Institutes of Health)H-Index: 48
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#1Rachel Abbotts (NIH: National Institutes of Health)H-Index: 1
#2David M. Wilson (NIH: National Institutes of Health)H-Index: 48
#1James C. Knight (University of Oxford)H-Index: 10
#2Sofia Koustoulidou (University of Oxford)H-Index: 3
Last.Bart Cornelissen (University of Oxford)H-Index: 20
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View next paperBase Excision Repair Variants in Cancer