Author

A. Dilliott

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Open access Sep 2026

ARPP21 defines a TDP-43-independent aggregation pathway in amyotrophic lateral sclerosis

The findings uncover ARPP21 as a previously unrecognized TDP-43-independent aggregation pathway in ALS, with implications for disease heterogeneity and therapeutic targeting, and Mechanistically, ARPP21 promoted intercellular propagation by inducing tunnelling nanotube formation, enabling efficient cell-to-cell spreadi...

D. Campos-Melo, A. Dilliott, S. Farhan et al. · bioRxiv · 0 citations

Jul 2026

Transcriptional pathways of definitive ALS genes implicate novel disease-associated target genes

This work identifies transcriptional pathways linking variants in definitive ALS genes to widespread coordinated co-expression activity driven by gene-specific transcriptional programs, and establishes a generalizable framework that is readily applicable across heritable diseases for the identification of disease-relev...

M. Fiorini, A. Dilliott, S. Alsabagh et al. · medRxiv · 0 citations

Open access Jun 2026

Large-scale functional annotation establishes a reference framework for human LRRK2 variants

Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.

Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al. · medRxiv · 0 citations