Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology

O. Ziff, Jacob Neeves, Jamie S. Mitchell, Giulia E. Tyzack, C. Martínez-Ruiz, Raphaëlle Luisier, A. Chakrabarti, N. Mcgranahan, K. Litchfield, S. Boulton, A. Al-Chalabi, Gavin P. Kelly, J. Humphrey, R. Patani

Nature Communications, 2023

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

Anna L. Brown, O. Wilkins, M. Keuss, Sarah E. Hill, M. Zanovello, Weaverly Colleen Lee, A. Bampton, Flora C. Y. Lee, L. Masino, Y. Qi, S. Bryce-Smith, A. Gatt, Martina Hallegger, D. Fagegaltier, H. Phatnani, Hemali Justin Dhruv James R. Zachary Ximena Edward B. Viv Phatnani Kwan Sareen Broach Simmons Arcila-Londono, Justin Kwan, D. Sareen, James R. Broach, Zachary Simmons, X. Arcila-Londono, Edward B. Lee, V. V. Van Deerlin, N. Shneider, E. Fraenkel, L. Ostrow, Frank Baas, Noah Zaitlen, James D. Berry, A. Malaspina, P. Fratta, Gregory A. Cox, Leslie M. Thompson, Steve Finkbeiner, E. Dardiotis, Timothy Miller, Siddharthan Chandran, S. Pal, E. Hornstein, D. Macgowan, Terry Heiman-Patterson, M. G. Hammell, N. Patsopoulos, O. Butovsky, Joshua Dubnau, Avindra Nath, Robert Bowser, Matthew M Harms, Eleonora Aronica, Mary Poss, Jennifer Phillips-Cremins, John Crary, N. Atassi, Dale J. Lange, Darius J. Adams, Leonidas Stefanis, M. Gotkine, Robert H. Baloh, Suma Babu, Towfique Raj, S. Paganoni, Ophir Shalem, Colin Smith, Bin Zhang, Brent Harris, Iris J. Broce, V. Drory, J. Ravits, Corey McMillan, Vilas Menon, Lani Wu, Steve Altschuler, Y. Lerner, Rita Sattler, K. Van Keuren-Jensen, O. Rozenblatt-Rosen, Kerstin Lindblad-Toh, Katharine Nicholson, Peter Gregersen, Jeong H. Lee, Sulev Kokos, Stephen Muljo, J. Newcombe, E. Gustavsson, S. Seddighi, Joel F Reyes, Steve Coon, Daniel M. Ramos, G. Schiavo, E.M.C. Fisher, Towfique Raj, M. Secrier, T. Lashley, J. Ule, E. Buratti, J. Humphrey, Michael E. Ward, P. Fratta

Nature, 2022

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

J. Humphrey, S. Venkatesh, R. Hasan, Jake T. Herb, K. de Paiva Lopes, Fahri Küçükali, M. Byrska-Bishop, U. S. Evani, G. Narzisi, D. Fagegaltier, K. Sleegers, H. Phatnani, David A. Knowles, P. Fratta, T. Raj

Nature Neuroscience, 2022

Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions

Rahat Hasan, J. Humphrey, C. Bettencourt, J. Newcombe, T. Lashley, P. Fratta, T. Raj

Acta Neuropathologica, 2021

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

M. Prudencio, J. Humphrey, Sarah R Pickles, Anna L. Brown, Sarah E. Hill, J. Kachergus, Ji Shi, M. Heckman, Matthew R. Spiegel, C. Cook, Yuping Song, Mei Yue, Lillian M. Daughrity, Y. Carlomagno, Karen R. Jansen-West, Cristhoper H. Fernandez De Castro, M. DeTure, S. Koga, Ying-Chih Wang, P. Sivakumar, C. Bodo, A. Candalija, K. Talbot, B. Selvaraj, K. Burr, S. Chandran, J. Newcombe, T. Lashley, I. Hubbard, Demetra Catalano, Duyang Kim, Nadia A. Propp, S. Fennessey, D. Fagegaltier, H. Phatnani, M. Secrier, E. Fisher, B. Oskarsson, M. van Blitterswijk, R. Rademakers, N. Graff-Radford, B. Boeve, D. Knopman, R. Petersen, K. Josephs, E. Thompson, T. Raj, Michael E. Ward, Dennis W. Dickson, T. Gendron, P. Fratta, L. Petrucelli

Journal of Clinical Investigation, 2020