Nature Search

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

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 Access27 Apr 2018
Nature Communications

Volume: 9, P: 1-14
The synthetic lethal interaction between CDS1 and CDS2 is a vulnerability in uveal melanoma and across multiple tumor types

This study employs a functional genomic approach to identify a synthetic lethal interaction between CDS1 and CDS2 in uveal melanoma and other cancers, which may represent a potential therapeutic target.

Pui Ying Chan
Diana Alexander
David J. Adams
ResearchOpen Access04 Jul 2025
Nature Genetics

Volume: 57, P: 1672-1683
SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination

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 Access28 Jun 2022
Nature Communications

Volume: 13, P: 1-16
ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks

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 Access08 Jan 2019
Nature Communications

Volume: 10, P: 1-18
Nuclear proteasomes buffer cytoplasmic proteins during autophagy compromise

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 Access29 Aug 2024
Nature Cell Biology

Volume: 26, P: 1691-1699
Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson’s disease mouse model

USP30 has been proposed to regulate mitophagy, a relevant Parkinson’s disease mechanism. Here, the authors show that Usp30 knockout mice and USP30 inhibitors like MTX115325 demonstrate neuroprotective responses in an alpha-synuclein mouse model of Parkinson’s disease.

Tracy-Shi Zhang Fang
Yu Sun
David K. Simon
ResearchOpen Access13 Nov 2023
Nature Communications

Volume: 14, P: 1-16
A high-throughput in vivo micronucleus assay for genome instability screening in mice

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
Protocols31 Dec 2014
Nature Protocols

Volume: 10, P: 205-215
Hyperphosphorylated tau self-assembles into amorphous aggregates eliciting TLR4-dependent responses

In this work, the authors report that hyperphosphorylated recombinant tau spontaneously assembles into small, amorphous aggregates, which disrupt membranes and induce Toll-like receptor 4-dependent responses in human macrophages.

Jonathan X. Meng
Yu Zhang
David Klenerman
ResearchOpen Access16 May 2022
Nature Communications

Volume: 13, P: 1-16
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

By developing a long-term ALS/FTD patient-specific iPSC-derived organoid model that recapitulates mature cortical cell types, the authors pinpoint early selective molecular pathologies at single-cell resolution and a druggable neuronal vulnerability.

Kornélia Szebényi
Léa M. D. Wenger
András Lakatos
ResearchOpen Access21 Oct 2021
Nature Neuroscience

Volume: 24, P: 1542-1554
Derivation and maintenance of mouse haploid embryonic stem cells

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
Protocols03 Jun 2019
Nature Protocols

Volume: 14, P: 1991-2014
Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells

Through CRISPR–Cas9 screen, Dev et al. identified that SHLD1/2 inhibition contributes to PARP-inhibitor resistance. Mechanistically, SHLDs promote non-homologous end-joining and antagonize homologous recombination.

Harveer Dev
Ting-Wei Will Chiang
Stephen P. Jackson
Research18 Jul 2018
Nature Cell Biology

Volume: 20, P: 954-965

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Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome

The synthetic lethal interaction between CDS1 and CDS2 is a vulnerability in uveal melanoma and across multiple tumor types

SHLD1 is dispensable for 53BP1-dependent V(D)J recombination but critical for productive class switch recombination

ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks

Nuclear proteasomes buffer cytoplasmic proteins during autophagy compromise

Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson’s disease mouse model

A high-throughput in vivo micronucleus assay for genome instability screening in mice

Hyperphosphorylated tau self-assembles into amorphous aggregates eliciting TLR4-dependent responses

Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

Derivation and maintenance of mouse haploid embryonic stem cells

Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells

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