Elizabeth Fisher

This study identifies impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons, linking Rab5 hyperactivation to endosomal dysfunction and ERK1/2 signalling deficits.

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 identifies novel Taf1 transcripts and protein distribution in mouse, revealing transcriptional diversity and elevated expression in cerebellum.

The paper investigates GABA inhibition in Down syndrome mouse models, finding circuit-specific increases in inhibition in the dentate gyrus due to gene dosage effects.

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.

This study creates (GA)400 knock-in mice to model C9orf72 polyGA expression, finding mild motor dysfunction and proteomic changes in the spinal cord.

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

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 identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

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

This study shows that loss of TDP-43 causes synaptic dysfunction through a cryptic exon in UNC13A, which is rescued by antisense oligonucleotides.

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 examines the brain phenotype of Dp1Tyb mice, a Down syndrome model, revealing neuroanatomical and biochemical alterations compared to wild-type controls.

The paper shows increased DYRK1A dosage causes mitochondrial dysfunction and congenital heart defects in Down syndrome, which can be mitigated by a DYRK1A inhibitor.

The paper investigates the impact of elevated cystatin B on cathepsin B activity and microglial localization in Alzheimer's disease in Down syndrome and early-onset Alzheimer's disease.

The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.

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 identifies chromosome 21 genes other than APP that modulate amyloid-β accumulation in Down syndrome mouse models.

The paper identifies four Hsa21-orthologous genes, including Dyrk1a, that cause craniofacial dysmorphology in Down syndrome mouse models by reducing neural crest cell proliferation.

The paper investigates endosomal structure and APP biology in Down syndrome mouse models and finds no alterations in endosome number, size, or APP processing.

The paper phenotypes Dp1Tyb mice, a Down syndrome model, and identifies multiple DS-like traits including cognitive and physical abnormalities.

This study investigates the effect of Cstb duplication on amyloid-β pathology and cathepsin activity in a mouse model of Alzheimer's disease, finding no significant impact on Aβ levels or cathepsin activity.

This study shows that FUS-ALS mutants form cytoplasmic condensates that alter FMRP phase separation, leading to translation inhibition in motor neurons.

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.

The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.

This paper applies a landmark-free morphometric method to a mouse model of Down syndrome, revealing localized cranial phenotypes not detectable with traditional landmark-based approaches.

This study identifies non-APP chromosome 21 genes that influence amyloid-β biology in Down syndrome mouse models, independent of APP copy number.

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