CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
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Aligning Science Across Parkinson'sORCID 0000-0002-3965-5253Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Riccardo Curró, Natalia Dominik, Stefano Facchini…·Andrea Cortese
Spencer M. Grant, Sarah J. Eger, Mary B. Makarious…·Kimberley J. Billingsley
The paper develops epigenetic clocks using long-read DNA methylation data from diverse ancestries, showing improved aging predictions and identifying ancestry-specific aging pathways.
Jonathan Brenton, Jordan Follett, Raja Sekhar Nirujogi…·Mina Ryten
The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.
Amy R. Hicks, Benjamin J. O’Callaghan, Jonathan Brenton…·Mina Ryten
The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.
Aine Fairbrother-Browne, Melissa Grant‐Peters, Jonathan Brenton…·Mina Ryten
This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.
Zhongbo Chen, Amy R. Hicks, Jonathan Brenton…·Mina Ryten
This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.
Melissa Grant‐Peters, Aine Fairbrother-Browne, Amy R. Hicks…·Mina Ryten
The paper investigates ligand-receptor interactions (LRIs) in neurological diseases and finds that 96.8% of disease-associated LRIs are interconnected, highlighting their role in disease comorbidity and potential drug targets.
Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley
The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.
Amy R. Hicks, Regina Hertfelder Reynolds, Benjamin J. O’Callaghan…·Mina Ryten
The paper investigates the regulatory role of the NSL complex in Parkinson's disease by analyzing gene expression and regulatory networks in brain tissues.
Eliona Tsefou, Alison S. Walker, Emily H. Clark…·Robin Ketteler
The paper investigates USP30 inhibition's role in enhancing Parkin-mediated mitophagy using pharmacological and genetic approaches in cellular models.