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Showing 1–12 of 12 results
Advanced filters: Author: Gabriel Balmus Clear advanced filters

  • Hutchinson-Gilford Progeria Syndrome is characterized by premature aging with cardiovascular disease being the main cause of death. Here the authors show that inhibition of the NAT10 enzyme enhances cardiac function and fitness, and reduces age-related phenotypes in a mouse model of premature aging.

    • Gabriel Balmus
    • Delphine Larrieu
    • Stephen P. Jackson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14

  • SHLD1, as a component of the Shieldin (SHLD) complex, mediates DNA repair via non-homologous end-joining (NHEJ), an essential process during lymphocyte development. Here the authors show that SHLD1 is actually dispensable for lymphocyte development and V(D)J recombination, but is essential for class-switching recombination in activated B cells.

    • Estelle Vincendeau
    • Wenming Wei
    • Ludovic Deriano
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16

  • Mutations in the ATM tumor suppressor gene confer hypersensitivity to DNA-damaging chemotherapeutic agents. Here, the authors provide evidence that these hypersensitivities reflect a crucial role for ATM at damaged replication forks being to prevent toxic DNA end-joining leading to chromosome fusions and cell death.

    • Gabriel Balmus
    • Domenic Pilger
    • Stephen P. Jackson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-18

  • Genome-wide association studies have identified genetic modifiers, mostly DNA repair genes, that significantly influence the onset and progression of Huntington disease, pointing to somatic CAG repeat expansions as a key pathological driver. Here, Tabrizi and colleagues review the evidence for this paradigm and discuss the potential for therapeutic interventions.

    • Jasmine Donaldson
    • Davina Hensman Moss
    • Sarah J. Tabrizi
    Reviews
    Nature Reviews Neurology
    Volume: 22, P: 5-21

  • Park et al. show that cells with impaired autophagy shuttle cytoplasmic proteins to the nucleus for degradation by nuclear proteasomes, revealing synergistic vulnerabilities in diseases where autophagy and nucleocytoplasmic transport are compromised.

    • So Jung Park
    • Sung Min Son
    • David C. Rubinsztein
    ResearchOpen Access
    Nature Cell Biology
    Volume: 26, P: 1691-1699

  • This protocol describes a sensitive, robust, high-throughput method for quantifying the formation of micronuclei in mouse erythrocytes. It detects low levels of genome instability and can be used to identify novel genome maintenance genes and models.

    • Gabriel Balmus
    • Natasha A Karp
    • Rebecca E McIntyre
    Protocols
    Nature Protocols
    Volume: 10, P: 205-215

  • This protocol describes how to derive and maintain mouse haploid embryonic stem cells (hESCs) from female gametes. Additional procedures that can be carried out with cell lines obtained from the mouse cell resource Haplobank are also described.

    • Ulrich Elling
    • Michael Woods
    • Gabriel Balmus
    Protocols
    Nature Protocols
    Volume: 14, P: 1991-2014