Paul M. McKeever

The paper constructs a single-nucleus transcriptome atlas of the orbitofrontal cortex in ALS and identifies cell-type-specific transcriptional changes, introducing a deep learning model to analyze alternative polyadenylation.

This study shows that TDP-43 SUMOylation is a stress response that protects neurons, and its disruption is linked to aging and disease.

This paper shows C9orf72 expansions create a folate-sensitive fragile site FRA9A, leading to chromosomal instability and immune responses in patient cells and mice.

This study shows TDP-43 stabilizes G3BP1 transcripts via direct binding, and TDP-43 depletion reduces G3BP1 protein levels, contributing to stress granule dysfunction in ALS/FTD.

The paper validates antibodies against the C9ORF72 protein, finding one specific monoclonal antibody and highlighting issues with others used in published studies.