Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Autor: Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp

Publikováno v: Brain
Brain, 142, 2948-2964. OXFORD UNIV PRESS
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Web of Science

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7c064194867fb9fae777523d58b32c6
http://hdl.handle.net/11570/3144286

Long-chain polyphosphates impair SARS-CoV-2 infection and replication: a route for therapy in man

Autor: Giuseppe Castaldo, Borriello G, Hyeri Kim, Fusco G, Ferrucci, Siciliano R, Angelo Boccia, Tiberio C, Kong D, Pierri Bm, Quarantelli F, Yun K, Marika Comegna, Monica Rd, Martina Bianchi, G. Paolella, Pisano I, Zollo M, Atripaldi L, Viscardi M, Barbara Izzo, Criscuolo G, Cerino P, Brandi S, Asadzadeh F, Marrone L, Jae Ho Cheong, Stefano Pascarella, Chiariotti L

Anti-viral activities of long-chain inorganic polyphosphates (PolyPs) against severe acute respiratory syndrome coronavirus (SARS-CoV)-2 infection were investigated. In molecular docking analyses, PolyPs interacted with several conserved angiotensin-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::56325e96cfafc9e667f233f69c22404e
https://doi.org/10.1101/2020.11.18.388413

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autor: Salpietro, V. Dixon, C.L. Guo, H. Bello, O.D. Vandrovcova, J. Efthymiou, S. Maroofian, R. Heimer, G. Burglen, L. Valence, S. Torti, E. Hacke, M. Rankin, J. Tariq, H. Colin, E. Procaccio, V. Striano, P. Mankad, K. Lieb, A. Chen, S. Pisani, L. Bettencourt, C. Männikkö, R. Manole, A. Brusco, A. Grosso, E. Ferrero, G.B. Armstrong-Moron, J. Gueden, S. Bar-Yosef, O. Tzadok, M. Monaghan, K.G. Santiago-Sim, T. Person, R.E. Cho, M.T. Willaert, R. Yoo, Y. Chae, J.-H. Quan, Y. Wu, H. Wang, T. Bernier, R.A. Xia, K. Blesson, A. Jain, M. Motazacker, M.M. Jaeger, B. Schneider, A.L. Boysen, K. Muir, A.M. Myers, C.T. Gavrilova, R.H. Gunderson, L. Schultz-Rogers, L. Klee, E.W. Dyment, D. Osmond, M. Parellada, M. Llorente, C. Gonzalez-Peñas, J. Carracedo, A. Van Haeringen, A. Ruivenkamp, C. Nava, C. Heron, D. Nardello, R. Iacomino, M. Minetti, C. Skabar, A. Fabretto, A. Hanna, M.G. Bugiardini, E. Hostettler, I. O’Callaghan, B. Khan, A. Cortese, A. O’Connor, E. Yau, W.Y. Bourinaris, T. Kaiyrzhanov, R. Chelban, V. Madej, M. Diana, M.C. Vari, M.S. Pedemonte, M. Bruno, C. Balagura, G. Scala, M. Fiorillo, C. Nobili, L. Malintan, N.T. Zanetti, M.N. Krishnakumar, S.S. Lignani, G. Jepson, J.E.C. Broda, P. Baldassari, S. Rossi, P. Fruscione, F. Madia, F. Traverso, M. De-Marco, P. Pérez-Dueñas, B. Munell, F. Kriouile, Y. El-Khorassani, M. Karashova, B. Avdjieva, D. Kathom, H. Tincheva, R. Van-Maldergem, L. Nachbauer, W. Boesch, S. Gagliano, A. Amadori, E. Goraya, J.S. Sultan, T. Kirmani, S. Ibrahim, S. Jan, F. Mine, J. Banu, S. Veggiotti, P. Zuccotti, G.V. Ferrari, M.D. Van Den Maagdenberg, A.M.J. Verrotti, A. Marseglia, G.L. Savasta, S. Soler, M.A. Scuderi, C. Borgione, E. Chimenz, R. Gitto, E. Dipasquale, V. Sallemi, A. Fusco, M. Cuppari, C. Cutrupi, M.C. Ruggieri, M. Cama, A. Capra, V. Mencacci, N.E. Boles, R. Gupta, N. Kabra, M. Papacostas, S. Zamba-Papanicolaou, E. Dardiotis, E. Maqbool, S. Rana, N. Atawneh, O. Lim, S.Y. Shaikh, F. Koutsis, G. Breza, M. Coviello, D.A. Dauvilliers, Y.A. AlKhawaja, I. AlKhawaja, M. Al-Mutairi, F. Stojkovic, T. Ferrucci, V. Zollo, M. Alkuraya, F.S. Kinali, M. Sherifa, H. Benrhouma, H. Turki, I.B.Y. Tazir, M. Obeid, M. Bakhtadze, S. Saadi, N.W. Zaki, M.S. Triki, C.C. Benfenati, F. Gustincich, S. Kara, M. Belcastro, V. Specchio, N. Capovilla, G. Karimiani, E.G. Salih, A.M. Okubadejo, N.U. Ojo, O.O. Oshinaike, O.O. Oguntunde, O. Wahab, K. Bello, A.H. Abubakar, S. Obiabo, Y. Nwazor, E. Ekenze, O. Williams, U. Iyagba, A. Taiwo, L. Komolafe, M. Senkevich, K. Shashkin, C. Zharkynbekova, N. Koneyev, K. Manizha, G. Isrofilov, M. Guliyeva, U. Salayev, K. Khachatryan, S. Rossi, S. Silvestri, G. Haridy, N. Ramenghi, L.A. Xiromerisiou, G. David, E. Aguennouz, M. Fidani, L. Spanaki, C. Tucci, A. Raspall-Chaure, M. Chez, M. Tsai, A. Fassi, E. Shinawi, M. Constantino, J.N. De Zorzi, R. Fortuna, S. Kok, F. Keren, B. Bonneau, D. Choi, M. Benzeev, B. Zara, F. Mefford, H.C. Scheffer, I.E. Clayton-Smith, J. Macaya, A. Rothman, J.E. Eichler, E.E. Kullmann, D.M. Houlden, H. SYNAPS Study Group

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders het

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::00ed26f79ff525b3b22543440ed019e6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3025879

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Autor: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL

Publikováno v: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014
Brain

Zollo et al. report that mutations in PRUNE1, a phosphoesterase superfamily molecule, underlie primary microcephaly and profound global developmental delay in four unrelated families from Oman, India, Iran and Italy. The study highlights a potential

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2db02146623e2293cb66ae2ab226462
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a