Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.D173A
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EXO1

NM_130398.4:p.D173A

Associated Papers

The nuclease EXO1 promotes genomic instability by degrading nascent DNA in BRCA-proficient cells.

Nusawardhana A et al.

Nature Communications, 2026

Chromatin remodeler Fun30 facilitates the relocation of persistent DNA double-strand breaks to the nuclear periphery.

Iqbal M et al.

Febs Letters, 2026

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1.

Senoussi I et al.

Nature Communications, 2025

EXO1 as a therapeutic target for Fanconi Anaemia, ZRSR2 and BRCA1-A complex deficient cancers.

Maric M et al.

Nature Communications, 2025

Meiotic DNA break resection and recombination rely on chromatin remodeler Fun30.

Huang PC et al.

The Embo Journal, 2025

PNKP safeguards stalled replication forks from nuclease-dependent degradation during replication stress.

Mashayekhi F et al.

Cell Reports, 2024

Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.

Ceppi I et al.

Nature, 2024

PCAF promotes R-loop resolution via histone acetylation.

Lee SY et al.

Nucleic Acids Research, 2024

The MRE11-RAD50-NBS1 complex both starts and extends DNA end resection in mouse meiosis.

Kim S et al.

Biorxiv : the Preprint Server for Biology, 2024

EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells.

García-Rodríguez N et al.

Nucleic Acids Research, 2024

Meiotic DNA break resection and recombination rely on chromatin remodeler Fun30.

Huang PC et al.

Biorxiv : the Preprint Server for Biology, 2024

EXO1 protects BRCA1-deficient cells against toxic DNA lesions.

van de Kooij B et al.

Molecular Cell, 2024

Human HELQ regulates DNA end resection at DNA double-strand breaks and stalled replication forks.

Zhao Y et al.

Nucleic Acids Research, 2023

Mitochondrial superoxide dismutase Sod2 suppresses nuclear genome instability during oxidative stress.

Gupta SV et al.

Genetics, 2023

A CRISPR-Cas9 screen identifies EXO1 as a formaldehyde resistance gene.

Gao Y et al.

Nature Communications, 2023

Role of EXO1 nuclease activity in genome maintenance, the immune response and tumor suppression in Exo1D173A mice.

Wang S et al.

Nucleic Acids Research, 2022

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.

Zhao X et al.

Journal of Huntington's Disease, 2021

FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.

Deshmukh AL et al.

Journal of Huntington's Disease, 2021

Molecular structures and mechanisms of DNA break processing in mouse meiosis.

Yamada S et al.

Genes & Development, 2020

Exo1 phosphorylation inhibits exonuclease activity and prevents fork collapse in rad53 mutants independently of the 14-3-3 proteins.

Morafraile EC et al.

Nucleic Acids Research, 2020

BLM has Contrary Effects on Repeat-Mediated Deletions, based on the Distance of DNA DSBs to a Repeat and Repeat Divergence.

Mendez-Dorantes C et al.

Cell Reports, 2020

Assembling the Human Resectosome on DNA Curtains.

Soniat MM et al.

Methods in Molecular Biology (clifton, N.j.), 2019

MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective.

Zhao X et al.

Plos Genetics, 2018

The MRX complex regulates Exo1 resection activity by altering DNA end structure.

Gobbini E et al.

The Embo Journal, 2018

Identification of Exo1-Msh2 interaction motifs in DNA mismatch repair and new Msh2-binding partners.

Goellner EM et al.

Nature Structural & Molecular Biology, 2018

Coordinated Activity of Y Family TLS Polymerases and EXO1 Protects Non-S Phase Cells from UV-Induced Cytotoxic Lesions.

Sertic S et al.

Molecular Cell, 2018

Sensing and Processing of DNA Interstrand Crosslinks by the Mismatch Repair Pathway.

Kato N et al.

Cell Reports, 2017

Genetic Interactions Implicating Postreplicative Repair in Okazaki Fragment Processing.

Becker JR et al.

Plos Genetics, 2015

14-3-3 proteins restrain the Exo1 nuclease to prevent overresection.

Chen X et al.

The Journal of Biological Chemistry, 2015

Exo1 phosphorylation status controls the hydroxyurea sensitivity of cells lacking the Pol32 subunit of DNA polymerases delta and zeta.

Doerfler L et al.

Dna Repair, 2014

Biochemical characterization of a cancer-associated E109K missense variant of human exonuclease 1.

Bregenhorn S et al.

Nucleic Acids Research, 2014

Hydrolytic function of Exo1 in mammalian mismatch repair.

Shao H et al.

Nucleic Acids Research, 2014

Phosphorylation of EXO1 by CDKs 1 and 2 regulates DNA end resection and repair pathway choice.

Tomimatsu N et al.

Nature Communications, 2014

The Saccharomyces cerevisiae Mlh1-Mlh3 heterodimer is an endonuclease that preferentially binds to Holliday junctions.

Ranjha L et al.

The Journal of Biological Chemistry, 2014

DNA-dependent protein kinase regulates DNA end resection in concert with Mre11-Rad50-Nbs1 (MRN) and ataxia telangiectasia-mutated (ATM).

Zhou Y et al.

The Journal of Biological Chemistry, 2013

The structure of Escherichia coli ExoIX--implications for DNA binding and catalysis in flap endonucleases.

Anstey-Gilbert CS et al.

Nucleic Acids Research, 2013

The mechanism of nucleotide excision repair-mediated UV-induced mutagenesis in nonproliferating cells.

Kozmin SG et al.

Genetics, 2013

Noncanonical role of the 9-1-1 clamp in the error-free DNA damage tolerance pathway.

Karras GI et al.

Molecular Cell, 2013

Exonuclease 1 (Exo1) is required for activating response to S(N)1 DNA methylating agents.

Izumchenko E et al.

Dna Repair, 2012

Structures of human exonuclease 1 DNA complexes suggest a unified mechanism for nuclease family.

Orans J et al.

Cell, 2011

BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.

Nimonkar AV et al.

Genes & Development, 2011

Bi-directional routing of DNA mismatch repair protein human exonuclease 1 to replication foci and DNA double strand breaks.

Liberti SE et al.

Dna Repair, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."