Emma L. Scotter

The paper develops an allele-selective qPCR assay to quantify X-chromosome inactivation in iPSC models of UBQLN2 ALS/FTD and identifies clones retaining XCI for further study.

ggDNAvis provides an R package for high-quality DNA sequence and methylation visualizations with customizable features and support for various data formats.

This study examines the immunophenotypic and ubiquitination diversity of Huntingtin inclusion bodies in Huntington's disease cerebral cortex, revealing heterogeneity in composition and degradation pathways.

This study identifies persistent extra-motor behavioural deficits in rNLS8 TDP-43 mice, linked to synaptic gene expression and splicing changes that persist even after motor recovery.

This study shows that microglial morphology changes before immunophenotype shifts in ALS, driven by TDP-43 aggregation, suggesting morphological changes may trigger immunological responses.

This paper performs a meta-analysis of UBQLN2 genetic variants in ALS/FTD, finding sex-specific differences in age at onset and aggregate burden in brain tissue.

The paper identifies TDP-43-regulated splicing events in ALS brain tissue and validates them as markers of TDP-43 loss of function using in vitro models and bulk RNA-sequencing.

This study examines microglial activation and TDP-43 pathology in ALS brains, finding increased CD68 and L-ferritin expression in human and mouse models linked to pTDP-43 aggregation.

The paper compares ubiquilin 2 and TDP-43 aggregate distribution in UBQLN2-linked and sporadic ALS/FTD cases across the CNS.

The paper identifies novel and known TDP-43 targets through meta-analysis of RNA-seq data from TDP-43 knockdown models and validates them in ALS/FTD brain tissue.

The paper identifies a hippocampal protein aggregation signature that distinguishes pathogenic from wildtype UBQLN2 in ALS/FTD cases.

The paper examines whether blood-spinal cord barrier breakdown correlates with motor neuron loss and TDP-43 proteinopathy in ALS, finding they have distinct regional patterns.

The paper identifies cardiac glycosides as regulators of neuroinflammatory pathways in brain-barrier tissues using in vitro and ex vivo human models.

The paper identifies shared regulatory pathways between grip strength and neuromuscular disorders using eQTL and Hi-C data, revealing common drug targets and biological mechanisms.