Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Authors: Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara ^{1, 2, 80, ∗}, Souza, Cleide dos Santos ^{3, 80}, Beal, Selina N. ³, Lorenzini, Ileana ⁴, Huang, Ruili ⁵, Levy, Jennifer ⁴, Burciu, Camelia ⁴, Jones, Ashley ⁷, Dewan, Ramita ¹, van Vugt, Joke J.F.A. ¹¹, van Rheenen, Wouter ¹¹, Tunca, Ceren ¹², Bayraktar, Elif ¹², Xia, Menghang ⁵, Iacoangeli, Alfredo ^{7, 13, 14}, Shatunov, Aleksey ⁷, Verde, Federico ^{9, 15}, Kenna, Kevin ¹¹, Al Khleifat, Ahmad ⁷, Opie-Martin, Sarah ⁷, Piccinelli, Stefano Cotti ^{18, 19}, Padovani, Alessandro ¹⁹, Galimberti, Daniela ^{34, 35}, Serpente, Maria ³⁴, Fenoglio, Chiara ^{34, 35}, Scarpini, Elio ³⁴, Curtis, Charles J. ^{41, 42}, Lee, Sang Hyuck ^{41, 42}, Chung, Raymond ^{41, 42}, Patel, Hamel ^{13, 42}, Cooper-Knock, Johnathan ⁴⁴, Breen, Gerome ^{41, 42}, Dobson, Richard J.B. ^{45, 46, 47, 48, 49}, van den Berg, Leonard H. ¹¹, D’Alfonso, Sandra ¹⁰, Chandran, Siddharthan ^{58, 59}, Pal, Suvankar ^{58, 60}, Johnson, Kory ⁶², Doucet-O’Hare, Tara ⁶³, Pasternack, Nicholas ⁶⁴, Wang, Tongguang ⁶⁴, Nath, Avindra ⁶⁴, Veldink, Jan H. ¹¹, Chiò, Adriano ^{24, 25, 26}, Sattler, Rita ⁴, Shaw, Christopher E. ^{69, 70, 80}, Ferraiuolo, Laura ^{71, 80}

Source: In Cell Genomics 13 November 2024 4(11)

Endogenous retroviruses are dysregulated in ALS

Authors: Pasternack, Nicholas ^{1, 5}, Doucet-O’Hare, Tara ², Johnson, Kory ³, Paulsen, Ole ⁵, Nath, Avindra ^{1, 6, ∗}

Source: In iScience 19 July 2024 27(7)

Retroviral Elements in Pathophysiology and as Therapeutic Targets for Amyotrophic Lateral Sclerosis

Authors: Li, Wenxue, Pandya, Darshan, Pasternack, Nicholas, Garcia-Montojo, Marta, Henderson, Lisa, Kozak, Christine A., Nath, Avindra

Source: In Neurotherapeutics July 2022 19(4):1085-1101

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7.

Authors: Pasternack, Nicholas, Paulsen, Ole, Nath, Avindra

Source: Frontiers in Genetics; 2025, p1-9, 9p

Subject Terms: CHROMOSOME structure, HUMAN endogenous retroviruses, HUMAN chromosomes, TANDEM repeats, AMINO acid sequence

TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.

Authors: Garcia-Montojo, Marta, Fathi, Saeed, Rastegar, Cyrus, Simula, Elena Rita, Doucet-O'Hare, Tara, Cheng, Y. H. Hank, Abrams, Rachel P. M., Pasternack, Nicholas, Malik, Nasir, Bachani, Muzna, Disanza, Brianna, Maric, Dragan, Lee, Myoung-Hwa, Wang, Herui, Santamaria, Ulisses, Li, Wenxue, Sampson, Kevon, Lorenzo, Juan Ramiro, Sanchez, Ignacio E., Mezghrani, Alexandre

Source: Nature Communications; 5/16/2024, Vol. 15 Issue 1, p1-24, 24p

Subject Terms: GENE expression, AMYOTROPHIC lateral sclerosis, DNA-binding proteins, MOTOR neurons, MOTOR cortex, PROTEIN folding

Neurovascular injury with complement activation and inflammation in COVID-19.

Authors: Lee, Myoung Hwa¹, Perl, Daniel P², Steiner, Joseph¹, Pasternack, Nicholas¹, Li, Wenxue¹, Maric, Dragan¹, Safavi, Farinaz¹, Horkayne-Szakaly, Iren³, Jones, Robert³, Stram, Michelle N⁴, Moncur, Joel T³, Hefti, Marco⁵, Folkerth, Rebecca D⁴, Nath, Avindra¹, natha@ninds.nih.gov

Source: Brain: A Journal of Neurology; Jul2022, Vol. 145 Issue 7, p2555-2568, 14p

Reply: The spectrum of complement pathway activation is integral to the pathogenesis of severe COVID-19.

Authors: Lee, Myoung-Hwa¹, Perl, Daniel P², Steiner, Joseph¹, Pasternack, Nicholas¹, Li, Wenxue¹, Maric, Dragan¹, Safavi, Farinaz¹, Horkayne-Szakaly, Iren³, Jones, Robert³, Stram, Michelle N⁴, Moncur, Joel T³, Hefti, Marco⁵, Folkerth, Rebecca D⁴, Nath, Avindra¹, natha@ninds.nih.gov

Source: Brain: A Journal of Neurology; Nov2022, Vol. 145 Issue 11, pe118-e118, 1p

GABA uptake transporters support dopamine release in dorsal striatum with maladaptive downregulation in a parkinsonism model.

Authors: Roberts, Bradley M., Doig, Natalie M., Brimblecombe, Katherine R., Lopes, Emanuel F., Siddorn, Ruth E., Threlfell, Sarah, Connor-Robson, Natalie, Bengoa-Vergniory, Nora, Pasternack, Nicholas, Wade-Martins, Richard, Magill, Peter J., Cragg, Stephanie J.

Source: Nature Communications; 10/2/2020, Vol. 11 Issue 1, pN.PAG-N.PAG, 1p

Subject Terms: GABA transporters, DOPAMINE, NUCLEUS accumbens, DOWNREGULATION, CELL membranes, MONOAMINE transporters