Thomas J. Cunningham

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.

The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.

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.

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

This study identifies syntaxin-6 as a modifier of prion and tau pathogenesis, showing it affects disease onset but not progression in experimental models.

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.

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.

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

This study characterizes a mouse model with TDP-43 M323K mutation, showing cognitive, motor, and structural brain abnormalities linked to TDP-43 mislocalization and increased levels.

This study shows that the FUSDelta14 mutation causes neurodevelopmental and systemic metabolic issues in mice, including brain structural abnormalities and metabolic pathway changes.

This study investigates the role of Stx6 in prion disease by creating a mouse model with genetic depletion of Stx6 and finding a modest effect on prion disease incubation periods.

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.

NMJ-Analyser quantifies neuromuscular junction morphology and innervation status in mouse models, identifying structural changes in ALS and peripheral neuropathy with high accuracy.

This study shows that ALS-FUS mutations disrupt HuD/ELAVL4 and FMRP activities, leading to axon phenotypes in motoneurons through altered transcript stability.