David Thompson

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.

Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTD

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

Generation of C9orf72h370 mice, an intron 1 humanised C9orf72 repeat-expansion knock-in model

The paper generates a mouse model with a humanised C9orf72 repeat expansion to study ALS and FTD, and demonstrates a method for creating such repeat expansions in genomic sequences.

Creation of de novo cryptic splicing for ALS/FTD precision medicine

The paper develops TDP-REG, a system using cryptic splicing to enable precise gene therapy activation in diseased neurons for ALS/FTD.

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.