Selected Publications:
Creation of de novo cryptic splicing for ALS and FTD precision medicine. Oscar G. Wilkins, Max Z. Y. J. Chien, Josette J. Wlaschin, Simone Barattucci, Peter Harley, Francesca Mattedi, Puja R. Mehta, Maria Pisliakova, Eugeni Ryadnov, Matthew J. Keuss, David Thompson, Holly Digby, Lea Knez, Rebecca L. Simkin, Juan Antinao Diaz, Matteo Zanovello, Anna-Leigh Brown, Annalucia Darbey, Rajvinder Karda, Elizabeth M. C. Fisher, Thomas J. Cunningham, Claire E. Le Pichon, Jernej Ule, and Pietro Fratta. Science, 2024
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD. Sahba Seddighi, Yue A Qi, Anna-Leigh Brown, Oscar G Wilkins, Colleen Bereda, Cedric Belair, Yong-Jie Zhang, Mercedes Prudencio, Matthew J Keuss, Aditya Khandeshi, Sarah Pickles, Sarah E Kargbo-Hill, James Hawrot, Daniel M Ramos, Hebao Yuan, Jessica Roberts, Erika Kelmer Sacramento, Syed I Shah, Mike A Nalls, Jennifer M Colón-Mercado, Joel F Reyes, Veronica H Ryan, Matthew P Nelson, Casey N Cook, Ziyi Li, Laurel Screven, Justin Y Kwan, Puja R Mehta, Matteo Zanovello, Martina Hallegger, Anantharaman Shantaraman, Lingyan Ping, Yuka Koike, Björn Oskarsson, Nathan P Staff, Duc M Duong, Aisha Ahmed, Maria Secrier, Jernej Ule, Steven Jacobson, Daniel S Reich, Jonathan D Rohrer, Andrea Malaspina, Dennis W Dickson, Jonathan D Glass, Alessandro Ori, Nicholas T Seyfried, Manolis Maragkakis, Leonard Petrucelli, Pietro Fratta, Michael E Ward. Science Translational Medicine, 2024
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke JFA van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja W Scholz, Jinhui Ding, J Raphael Gibbs, Adriano Chiò, Clifton Dalgard, Ben Weisburd, Michael G Hanna, Linda Greensmith, Hemali Phatnani, Jan H Veldink, Bryan J Traynor, James Polke, Henry Houlden, Pietro Fratta, Arianna Tucci. Brain, 2023
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Anna-Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Flora C.Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Alexander Bampton, Ariana Gatt, Hemali Phatnani, NYGC ALS Consortium, Giampietro Schiavo, Elizabeth M.C. Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward, Pietro Fratta. Nature, 2022; doi: https://doi.org/10.1038/s41586-022-04436-3
HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing. Bampton A, Gatt A, Humphrey J, Cappelli S, Bhattacharya D, Foti S, Brown AL, Asi Y, Low YH, Foiani M, Raj T, Buratti E, Fratta P, Lashley T. Acta Neuropathol. 2021 Oct;142(4):609-627. doi: 10.1007/s00401-021-02340-0. Epub 2021 Jul 18. PMID: 34274995.
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation. Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P. Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. PMID: 34290090; PMCID: PMC8294762.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. PMID: 32479602; PMCID: PMC7337901.