Selected Publications:

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.