Matteo Zanovello

Queen Mary University of London — United Kingdom

Medicine · Health Sciences

12h-index903citations33works14.62yr avg
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Research Topics

Amyotrophic Lateral Sclerosis Research(14), Genetic Neurodegenerative Diseases(9), Neurogenetic and Muscular Disorders Research(9), RNA Research and Splicing(7), Mitochondrial Function and Pathology(6)

Publications33 total

U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral Sclerosis
2025Open Access
Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential
2025Open Access
Characterization of disease restricted antigen-specific CD8 T cells in TDP-43 pathology 4476
The Journal of Immunology·2025Open Access
Clonally expanded CD8 T cells recognize cryptic epitopes induced by TDP-43 pathology 3160
The Journal of Immunology·2025Open Access
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD
Nature Neuroscience·2025· 5 citedOpen Access
TDP-43 loss induces cryptic polyadenylation in ALS/FTD
Nature Neuroscience·2025· 10 citedOpen Access
TDP-43 pathology induces CD8 <sup>+</sup> T cell activation through cryptic epitope recognition
2025· 2 citedOpen Access
High Prevalence of <i>SOD1</i> Pathogenic Variants in the UK Biobank: Implications for Early Intervention in ALS
2025Open Access
<i>C9orf72</i> polyGA knock-in mice exhibit mild motor and proteomic changes consistent with ALS/FTD
2025Open Access
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits
Genes·2025Open Access
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics
Genomics Proteomics & Bioinformatics·2024· 6 citedOpen Access
Creation of de novo cryptic splicing for ALS and FTD precision medicine
Science·2024· 27 citedOpen Access
Increased frequency of repeat expansion mutations across different populations
Nature Medicine·2024· 54 citedOpen Access
G008 Population analysis of repeat expansions indicates increased frequency of pathogenic alleles across different populations
2024· 1 citedOpen Access
Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs
2024· 25 citedOpen Access
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Nature·2024· 3 citedOpen Access
Teambuilding und Arbeitsplatzsicherheit während der ersten Welle der COVID-19-Pandemie
OP-Management up2date·2024
271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
Neuromuscular Disorders·2024Open Access
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
Nature Neuroscience·2024· 31 citedOpen Access
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Science Translational Medicine·2024· 134 citedOpen Access
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Frequent Co-authors

Pietro Fratta(16), Matthew J. Keuss(14), Oscar G. Wilkins(9), Elizabeth Fisher(9), Puja R. Mehta(9), Yue Qi(8), Michael E. Ward(8), Anna‐Leigh Brown(8), Pietro Fratta(8), Sarah E. Hill(7), Sam Bryce-Smith(7), Hemali Phatnani(7), Towfique Raj(7), Maria Secrier(7), Jernej Ule(7), Simone Barattucci(7), Anna‐Leigh Brown(6), Jack Humphrey(6), Delia Gagliardi(6), Henry Houlden(6)