Matteo Zanovello

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss et al. · Nature · 2022 · 471 citations · Full text

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

Sahba Seddighi, Yue Qi, Anna‐Leigh Brown et al. · Science Translational Medicine · 2024 · 134 citations · Full text

Genetics, Splicing Variant, Cryptic Exons +16

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello et al. · Nature Medicine · 2024 · 53 citations · Full text

Allelic Variant, Natural Sciences, Genetics +7

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Carmelo Milioto, Mireia Carcolé, Ashling Giblin et al. · Nature Neuroscience · 2024 · 30 citations · Full text

Creation of de novo cryptic splicing for ALS and FTD precision medicine

Oscar G. Wilkins, Max Z. Y. J. Chien, Josette J Wlaschin et al. · Science · 2024 · 27 citations · Full text

Engineering, Tdp-reg Reporters, Rna Splicing +20