Christopher J. Donnelly

ADAR2-Mediated RNA Editing Promotes TDP-43 Nuclear Export and Alters RNA Binding

This study shows ADAR2-mediated RNA editing promotes TDP-43 nuclear export and alters its RNA binding, contributing to neurodegenerative disease mechanisms.

Short RNA chaperones promote aggregation-resistant TDP-43 conformers to mitigate neurodegeneration

Short UG-rich RNAs bind and stabilize TDP-43 RNA-recognition motifs to allosterically destabilize its prion-like domain helical region, preventing aggregation and mitigating neurodegeneration in cells and mice.

Context-dependent Interactors Regulate TDP-43 Dysfunction in ALS/FTLD

The paper identifies context-dependent interactors of TDP-43 that regulate its dysfunction in ALS/FTLD using proximity labeling, mass spectrometry, and snRNA-seq integration.

Opposing roles of p38α phosphorylation and arginine methylation in driving TDP-43 proteinopathy.

This study identifies opposing roles of p38α phosphorylation and arginine methylation in TDP-43 proteinopathy, showing that phosphorylation promotes aggregation while methylation reduces it.

CUTS RNA Biosensor for the Real-Time Detection of TDP-43 Loss-of-Function

The paper introduces CUTS, a biosensor for real-time detection of TDP-43 loss-of-function, showing its sensitivity, accuracy, and potential for gene therapy applications.

Cellular and molecular phenotypes of C9orf72 ALS/FTD patient derived iPSC-microglia mono-cultures

This study examines C9orf72 ALS/FTD patient-derived iPSC-microglia mono-cultures, finding they form RNA foci, have reduced C9orf72 protein, and show endosomal-lysosomal dysfunction, but no significant microglial-enriched gene expression differences.

Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity

The paper identifies eRF1 and NMD as modifiers of C9orf72 repeat expansion toxicity by analyzing nucleocytoplasmic proteomic changes in ALS/FTD.