Jonathan D. Gilthorpe

Metabolic alterations in the absence of a detectable neuromuscular phenotype in novel genomically humanised SOD1A4V mice.

This study generates and analyzes a novel genomically humanised SOD1A4V mouse model, revealing metabolic dysfunction through multi-omic analyses and identifying it as a potential pre-symptomatic ALS model.

Fibrillarin shapes oncogenic protein pools and ribosomal composition in triple-negative breast cancer

This study shows that Fibrillarin regulates oncogenic protein pools and ribosomal composition in triple-negative breast cancer by modulating rRNA methylation and RPS28 levels.

Histones are exosome membrane proteins regulated by cell stress

This study identifies histones as exosome membrane proteins regulated by cell stress, showing they are secreted via the exosome pathway and lack nuclear post-translational modifications.

The catalytic-independent function of LSD1 modulates the epigenetic landscape of mouse embryonic stem cells

This study shows that LSD1's non-catalytic function regulates DNA methylation in mouse ESCs by controlling UHRF1 and DNMT1 stability through USP7 interaction.

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension

This study shows that low oxygen tension promotes SOD1 misfolding and aggregation in ALS-related cells, linking oxygen levels to disease pathogenesis.