Finding driver mutations in cancer: Elucidating the role of background mutational processes

por Brown, Anna-Leigh, Li, Minghui, Goncearenco, Alexander, Panchenko, Anna R.
Publicado 2019

The era of cryptic exons: implications for ALS-FTD

por Mehta, Puja R., Brown, Anna-Leigh, Ward, Michael E., Fratta, Pietro
Publicado 2023

Morphological variability is greater at developing than mature mouse neuromuscular junctions

por Mech, Aleksandra M., Brown, Anna‐Leigh, Schiavo, Giampietro, Sleigh, James N.
Publicado 2020

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

por Bampton, Alexander, Gatt, Ariana, Humphrey, Jack, Cappelli, Sara, Bhattacharya, Dipanjan, Foti, Sandrine, Brown, Anna-Leigh, Asi, Yasmine, Low, Yi Hua, Foiani, Marco, Raj, Towfique, Buratti, Emanuele, Fratta, Pietro, Lashley, Tammaryn
Publicado 2021

NOS1AP is a novel molecular target and critical factor in TDP-43 pathology

por Cappelli, Sara, Spalloni, Alida, Feiguin, Fabian, Visani, Giulia, Šušnjar, Urša, Brown, Anna-Leigh, De Bardi, Marco, Borsellino, Giovanna, Secrier, Maria, Phatnani, Hemali, Romano, Maurizio, Fratta, Pietro, Longone, Patrizia, Buratti, Emanuele
Publicado 2022

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

por Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, Buratti, Emanuele
Publicado 2022

Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer

por Roper, Nitin, Velez, Moises J., Chiappori, Alberto, Kim, Yoo Sun, Wei, Jun S., Sindiri, Sivasish, Takahashi, Nobuyuki, Mulford, Deborah, Kumar, Suresh, Ylaya, Kris, Trindade, Christopher, Manukyan, Irena, Brown, Anna-Leigh, Trepel, Jane B., Lee, Jung-Min, Hewitt, Stephen, Khan, Javed, Thomas, Anish
Publicado 2021

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors

por Roper, Nitin, Gao, Shaojian, Maity, Tapan K., Banday, A. Rouf, Zhang, Xu, Venugopalan, Abhilash, Cultraro, Constance M., Patidar, Rajesh, Sindiri, Sivasish, Brown, Anna-Leigh, Goncearenco, Alexander, Panchenko, Anna R., Biswas, Romi, Thomas, Anish, Rajan, Arun, Carter, Corey A., Kleiner, David E., Hewitt, Stephen M., Khan, Javed, Prokunina-Olsson, Ludmila, Guha, Udayan
Publicado 2019

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

por Zanovello, Matteo, Ibáñez, Kristina, Brown, Anna-Leigh, Sivakumar, Prasanth, Bombaci, Alessandro, Santos, Liana, van Vugt, Joke J F A, Narzisi, Giuseppe, Karra, Ramita, Scholz, Sonja W, Ding, Jinhui, Gibbs, J Raphael, Chiò, Adriano, Dalgard, Clifton, Weisburd, Ben, Hanna, Michael G, Greensmith, Linda, Phatnani, Hemali, Veldink, Jan H, Traynor, Bryan J, Polke, James, Houlden, Henry, Fratta, Pietro, Tucci, Arianna
Publicado 2023

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

por Humphrey, Jack, Birsa, Nicol, Milioto, Carmelo, McLaughlin, Martha, Ule, Agnieszka M, Robaldo, David, Eberle, Andrea B, Kräuchi, Rahel, Bentham, Matthew, Brown, Anna-Leigh, Jarvis, Seth, Bodo, Cristian, Garone, Maria G, Devoy, Anny, Soraru, Gianni, Rosa, Alessandro, Bozzoni, Irene, Fisher, Elizabeth M C, Mühlemann, Oliver, Schiavo, Giampietro, Ruepp, Marc-David, Isaacs, Adrian M, Plagnol, Vincent, Fratta, Pietro
Publicado 2020

Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer

por Roper, Nitin, Brown, Anna-Leigh, Wei, Jun S., Pack, Svetlana, Trindade, Christopher, Kim, Chul, Restifo, Olivia, Gao, Shaojian, Sindiri, Sivasish, Mehrabadi, Farid, El Meskini, Rajaa, Ohler, Zoe Weaver, Maity, Tapan K., Venugopalan, Abhilash, Cultraro, Constance M., Akoth, Elizabeth, Padiernos, Emerson, Chen, Haobin, Kesarwala, Aparna, Smart, DeeDee K., Nilubol, Naris, Rajan, Arun, Piotrowska, Zofia, Xi, Liqiang, Raffeld, Mark, Panchenko, Anna R., Sahinalp, Cenk, Hewitt, Stephen, Hoang, Chuong D., Khan, Javed, Guha, Udayan
Publicado 2020

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

por Brown, Anna-Leigh, Wilkins, Oscar G., Keuss, Matthew J., Hill, Sarah E., Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora C. Y., Masino, Laura, Qi, Yue A., Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, Newcombe, Jia, Gustavsson, Emil K., Seddighi, Sahba, Reyes, Joel F., Coon, Steven L., Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth M. C., Raj, Towfique, Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E., Fratta, Pietro
Publicado 2022

Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD

por Seddighi, Sahba, Qi, Yue A., Brown, Anna-Leigh, Wilkins, Oscar G., Bereda, Colleen, Belair, Cedric, Zhang, Yongjie, Prudencio, Mercedes, Keuss, Matthew J, Khandeshi, Aditya, Pickles, Sarah, Hill, Sarah E., Hawrot, James, Ramos, Daniel M., Yuan, Hebao, Roberts, Jessica, Kelmer Sacramento, Erika, Shah, Syed I., Nalls, Mike A., Colon-Mercado, Jenn, Reyes, Joel F., Ryan, Veronica H., Nelson, Matthew P., Cook, Casey, Li, Ziyi, Screven, Laurel, Kwan, Justin Y, Shantaraman, Anantharaman, Ping, Lingyan, Koike, Yuka, Oskarsson, Björn, Staff, Nathan, Duong, Duc M., Ahmed, Aisha, Secrier, Maria, Ule, Jerneg, Jacobson, Steven, Rohrer, Jonathan, Malaspina, Andrea, Glass, Jonathan D., Ori, Alessandro, Seyfried, Nicholas T., Maragkakis, Manolis, Petrucelli, Leonard, Fratta, Pietro, Ward, Michael E.
Publicado 2023