Georgia Price

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.

Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of function

This study identifies sex-dependent motor neuron dysfunction and cargo-specific axonal transport impairments in FUS-ALS mice, linking endosomal transport defects to denervation in ALS.

Generation, quality control, and analysis of the first genomically humanised knock-in mice for the ALS/FTD genes SOD1, TARDBP (TDP-43), and FUS

The paper creates genomically humanised knock-in mice for ALS/FTD genes SOD1, TARDBP, and FUS, showing they express human proteins at endogenous levels and are phenotypically normal.