المؤلفون: Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

المصدر: Cell Death and Disease, Vol 13, Iss 11, Pp 1-16 (2022)

مصطلحات موضوعية: Cytology, QH573-671

الوصف: Abstract Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs due to haploinsufficiency of the retinoic acid-induced-1 (RAI1) gene caused by either chromosomal deletion (SMS-del) or RAI1 missense/nonsense mutation. The molecular mechanisms underlying SMS are unknown. Here, we generated and characterized primary cells derived from four SMS patients (two with SMS-del and two carrying RAI1 point mutations) and four control subjects to investigate the pathogenetic processes underlying SMS. By combining transcriptomic and lipidomic analyses, we found altered expression of lipid and lysosomal genes, deregulation of lipid metabolism, accumulation of lipid droplets, and blocked autophagic flux. We also found that SMS cells exhibited increased cell death associated with the mitochondrial pathology and the production of reactive oxygen species. Treatment with N-acetylcysteine reduced cell death and lipid accumulation, which suggests a causative link between metabolic dyshomeostasis and cell viability. Our results highlight the pathological processes in human SMS cells involving lipid metabolism, autophagy defects and mitochondrial dysfunction and suggest new potential therapeutic targets for patient treatment.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-4889Test

الوصول الحر: https://doaj.org/article/3481a3d58ebf491c977d49d933ec8e59Test

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Shoaib, Agbor, Valirie, Agdeppa, Imelda, Aghazadeh-Attari, Javad, Aguenaou, Hassan, Aguilar-Salinas, Carlos, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Imran, Ahmed, Soheir, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa, Al-Lahou, Badreya, Al-Raddadi, Rajaa, Al Hourani, Huda, Al Qaoud, Nawal, Alarouj, Monira, Albuhairan, Fadia, Aldhukair, Shahla, Aldwairji, Maryam, Alexius, Sylvia, Ali, Mohamed, Alkandari, Abdullah, Alkerwi, Ala’a, Alkhatib, Buthaina, Allin, Kristine, Alvarez-Pedrerol, Mar, Aly, Eman, Amarapurkar, Deepak, Etxezarreta, Pilar Amiano, Amoah, John, Amougou, Norbert, Amouyel, Philippe, Andersen, Lars Bo, Anderssen, Sigmund, Androutsos, Odysseas, Ängquist, Lars, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Araújo, Joana, Ariansen, Inger, Aris, Tahir, Arku, Raphael, Arlappa, Nimmathota, Aryal, Krishna, Aseffa, Nega, Aspelund, Thor, Assah, Felix, 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Fernanda, Lin, Hsien-Ho, Lin, Xu, Lin, Yi-Ting, Lind, Lars, Lingam, Vijaya, Linkohr, Birgit, Linneberg, Allan, Lissner, Lauren, Litwin, Mieczyslaw, Liu, Jing, Liu, Lijuan, Lo, Wei-Cheng, Loit, Helle-Mai, Long, Khuong Quynh, Abril, Guadalupe Longo, Lopes, Luis, Lopes, Marcus, Lopes, Oscar, Lopez-Garcia, Esther, Lopez, Tania, Lotufo, Paulo, Lozano, José Eugenio, Lukrafka, Janice, Luksiene, Dalia, Lundqvist, Annamari, Lunet, Nuno, Lunogelo, Charles, Lustigová, Michala, Łuszczki, Edyta, M’buyamba-Kabangu, Jean-René, Ma, Guansheng, Ma, Xu, Machado-Coelho, George, Machado-Rodrigues, Aristides, Macia, Enguerran, Macieira, Luisa, Madar, Ahmed, Madsen, Anja, Maestre, Gladys, Maggi, Stefania, Magliano, Dianna, Magnacca, Sara, Magriplis, Emmanuella, Mahasampath, Gowri, Maire, Bernard, Majer, Marjeta, Makdisse, Marcia, Mäki, Päivi, Malekzadeh, Fatemeh, Malekzadeh, Reza, Malhotra, Rahul, Rao, Kodavanti Mallikharjuna, Malyutina, Sofia, Maniego, Lynell, Manios, Yannis, Manix, Masimango Imani, Mann, Jim, Mansour-Ghanaei, Fariborz, Manyanga, Taru, Manzato, Enzo, Marcil, Anie, Margozzini, Paula, Mariño, Joany, Markaki, Anastasia, Markey, Oonagh, Ioannidou, Eliza Markidou, Marques-Vidal, Pedro, Marques, Larissa Pruner, Marrugat, Jaume, Martin-Prevel, Yves, Martin, Rosemarie, Martorell, Reynaldo, Martos, Eva, Maruszczak, Katharina, Marventano, Stefano, Masala, Giovanna, Mascarenhas, Luis, Masoodi, Shariq, Mathiesen, Ellisiv, Mathur, Prashant, Matijasevich, Alicia, Matłosz, Piotr, Matsha, Tandi, Matsudo, Victor, Mavrogianni, Christina, Mazur, Artur, Mbanya, Jean Claude N., Mcfarlane, Shelly, Mcgarvey, Stephen, Mckee, Martin, Mclachlan, Stela, Mclean, Rachael, Mclean, Scott, Mcnairy, Margaret, Mcnulty, Breige, Benchekor, Sounnia Mediene, Medzioniene, Jurate, Mehdipour, Parinaz, Mehlig, Kirsten, Mehrparvar, Amir Houshang, Meirhaeghe, Aline, Meisfjord, Jørgen, Meisinger, Christa, Melgarejo, Jesus, Melkumova, Marina, Mello, João, Méndez, Fabián, Mendivil, Carlos, Menezes, Ana Maria B., Menon, Geetha, Mensink, Gert, Menzano, Maria Teresa, Meshram, Indrapal, Meto, Diane, Mi, Jie, Michaelsen, Kim, Michels, Nathalie, Mikkel, Kairit, Miłkowska, Karolina, Miller, Jody, Milushkina, Olga, Minderico, Cláudia, Mini, G., Miquel, Juan Francisco, Miranda, J. Jaime, Mirjalili, Mohammad Reza, Mirkopoulou, Daphne, Mirrakhimov, Erkin, Mišigoj-Duraković, Marjeta, Mistretta, Antonio, Mocanu, Veronica, Modesti, Pietro, Moghaddam, Sahar Saeedi, Mohajer, Bahram, Mohamed, Mostafa, Mohamed, Shukri, Mohammad, Kazem, Mohammadi, Mohammad Reza, Mohammadi, Zahra, Mohammadifard, Noushin, Mohammadpourhodki, Reza, Mohan, Viswanathan, Mohanna, Salim, Yusoff, Muhammad Fadhli Mohd, Mohebbi, Iraj, Mohebi, Farnam, Moitry, Marie, Møllehave, Line, Møller, Niels, Molnár, Dénes, Momenan, Amirabbas, Mondo, Charles, Montenegro Mendoza, Roger, Monterrubio-Flores, Eric, Monyeki, Kotsedi Daniel K., Moon, Jin Soo, Moosazadeh, Mahmood, Mopa, Hermine, Moradpour, Farhad, Moreira, Leila, Morejon, Alain, Moreno, Luis, Morey, Francis, Morgan, Karen, Morin, Suzanne, Mortensen, Erik Lykke, Moschonis, George, Moslem, Alireza, Mossakowska, Malgorzata, Mostafa, Aya, Mostafavi, Seyed-Ali, Mota-Pinto, Anabela, Mota, Jorge, Motlagh, Mohammad Esmaeel, Motta, Jorge, Moura-Dos-Santos, Marcos André, Movsesyan, Yeva, Msyamboza, Kelias, Mu, Thet Thet, Muc, Magdalena, Muca, Florian, Mugoša, Boban, Muiesan, Maria, Müller-Nurasyid, Martina, Münzel, Thomas, Mursu, Jaakko, Murtagh, Elaine, Musa, Kamarul Imran, Milanović, Sanja Musić, Musil, Vera, Musinguzi, Geofrey, Muyer, Muel Telo M. C., Nabipour, Iraj, Naderimagham, Shohreh, Nagel, Gabriele, Najafi, Farid, Nakamura, Harunobu, Nalecz, Hanna, Námešná, Jana, Nang, Ei Ei K., Nangia, Vinay, Nankap, Martin, Narake, Sameer, Nardone, Paola, Naseri, Take, Nauck, Matthias, Neal, William, Nejatizadeh, Azim, Nekkantti, Chandini, Nelis, Keiu, Nenko, Ilona, Neovius, Martin, Nervi, Flavio, Ng, Tze Pin, Nguyen, Chung, Nguyen, Nguyen, Nguyen, Quang Ngoc, Ni, Michael, Nicolescu, Rodica, Nie, Peng, Nieto-Martínez, Ramfis, Nikitin, Yury, Ning, Guang, Ninomiya, Toshiharu, Nishi, Nobuo, Nishtar, Sania, Noale, Marianna, Noboa, Oscar, Nogueira, Helena, Nordendahl, Maria, Nordestgaard, Børge, Noto, Davide, Nowak-Szczepanska, Natalia, Nsour, Mohannad Al, Nuhoğlu, Irfan, Nunes, Baltazar, Nurk, Eha, Nuwaha, Fred, Nyirenda, Moffat, O’neill, Terence, O’reilly, Dermot, Obreja, Galina, Ochimana, Caleb, Ochoa-Avilés, Angélica, Oda, Eiji, Odili, Augustine, Oh, Kyungwon, Ohara, Kumiko, Ohlsson, Claes, Ohtsuka, Ryutaro, Olafsson, Örn, Olinto, Maria Teresa A., Oliveira, Isabel, Omar, Mohd Azahadi, Omar, Saeed, Onat, Altan, Ong, Sok King, Onland-Moret, N. Charlotte, Ono, Lariane, Ordunez, Pedro, Ornelas, Rui, Ortiz, Ana, Ortiz, Pedro, Osler, Merete, Osmond, Clive, Ostojic, Sergej, Ostovar, Afshin, Otero, Johanna, Overvad, Kim, Owusu-Dabo, Ellis, Paccaud, Fred Michel, Pagkalos, Ioannis, Pahomova, Elena, de Paiva, Karina Mary, Pająk, Andrzej, Palloni, Alberto, Palmieri, Luigi, Pan, Wen-Harn, Panda-Jonas, Songhomitra, Pandey, Arvind, Panza, Francesco, Paoli, Mariela, Papadopoulou, Sousana, Papandreou, Dimitrios, Pareja, Rossina, Park, Soon-Woo, Park, Suyeon, Parnell, Winsome, Parsaeian, Mahboubeh, Pascanu, Ionela, Pasquet, Patrick, Patel, Nikhil, Pattussi, Marcos, Pavlyshyn, Halyna, Pechlaner, Raimund, Pećin, Ivan, Pednekar, Mangesh, Pedro, João, Peer, Nasheeta, Peixoto, Sergio Viana, Peltonen, Markku, Pereira, Alexandre, Peres, Marco, Pérez, Cynthia, Peterkova, Valentina, Peters, Annette, Petersmann, Astrid, Petkeviciene, Janina, Petrauskiene, Ausra, Kovtun, Olga Petrovna, Pettenuzzo, Emanuela, Peykari, Niloofar, Pfeiffer, Norbert, Phall, Modou Cheyassin, Pham, Son Thai, Pichardo, Rafael, Pierannunzio, Daniela, Pigeot, Iris, Pikhart, Hynek, Pilav, Aida, Pilotto, Lorenza, Pistelli, Francesco, Pitakaka, Freda, Piwonska, Aleksandra, Pizarro, Andreia, Plans-Rubió, Pedro, Platonova, Alina, Poh, Bee Koon, Pohlabeln, Hermann, Polka, Nadija, Pop, Raluca, Popovic, Stevo, Porta, Miquel, Posch, Georg, Poudyal, Anil, Poulimeneas, Dimitrios, Pouraram, Hamed, Pourfarzi, Farhad, Pourshams, Akram, Poustchi, Hossein, Pradeepa, Rajendra, Price, Alison, Price, Jacqueline, Prista, Antonio, Providencia, Rui, Puder, Jardena, Pudule, Iveta, Puiu, Maria, Punab, Margus, Qadir, Muhammed, Qasrawi, Radwan, Qorbani, Mostafa, Quintana, Hedley, Quiroga-Padilla, Pedro, Bao, Tran Quoc, Rach, Stefan, Radic, Ivana, Radisauskas, Ricardas, Rahimikazerooni, Salar, Rahman, Mahfuzar, Rahman, Mahmudur, Raitakari, Olli, Raj, Manu, Rajabov, Tamerlan, Rakhmatulloev, Sherali, Rakovac, Ivo, Rao, Sudha Ramachandra, Ramachandran, Ambady, Ramadan, Otim, Ramires, Virgílio, Ramke, Jacqueline, Ramos, Elisabete, Ramos, Rafel, Rampal, Lekhraj, Rampal, Sanjay, Rangelova, Lalka, Rarra, Vayia, Rascon-Pacheco, Ramon, Rech, Cassiano Ricardo, Redon, Josep, Reganit, Paul Ferdinand M., Regecová, Valéria, Renner, Jane, Repasy, Judit, Reuter, Cézane, Revilla, Luis, Rezaianzadeh, Abbas, Rho, Yeunsook, Ribas-Barba, Lourdes, Ribeiro, Robespierre, Riboli, Elio, Richter, Adrian, Rigo, Fernando, Rigotti, Attilio, Rinaldo, Natascia, Rinke de Wit, Tobias, Rito, Ana, Ritti-Dias, Raphael, Rivera, Juan, Roa, Reina, Robinson, Louise, Robitaille, Cynthia, Roccaldo, Romana, Rodrigues, Daniela, Rodríguez-Artalejo, Fernando, del Cristo Rodriguez-Perez, María, Rodríguez-Villamizar, Laura, Rodríguez, Andrea, Roggenbuck, Ulla, Rohloff, Peter, Rohner, Fabian, Rojas-Martinez, Rosalba, Rojroongwasinkul, Nipa, Romaguera, Dora, Romeo, Elisabetta, Rosario, Rafaela, Rosengren, Annika, Rouse, Ian, Rouzier, Vanessa, Roy, Joel, Ruano, Maira, Rubinstein, Adolfo, Rühli, Frank, Ruidavets, Jean-Bernard, Ruiz-Betancourt, Blanca Sandra, Ruiz-Castell, Maria, Moreno, Emma Ruiz, Rusakova, Iuliia, Jonsson, Kenisha Russell, Russo, Paola, Rust, Petra, Rutkowski, Marcin, Saamel, Marge, Sabanayagam, Charumathi, Sabbaghi, Hamideh, Sacchini, Elena, Sachdev, Harshpal, Sadjadi, Alireza, Safarpour, Ali Reza, Safi, Sare, Safiri, Saeid, Saghi, Mohammad Hossien, Saidi, Olfa, Saki, Nader, Šalaj, Sanja, Salanave, Benoit, Martinez, Eduardo Salazar, Saleva, Calogero, Salmerón, Diego, Salomaa, Veikko, Salonen, Jukka, Salvetti, Massimo, Samoutian, Margarita, Sánchez-Abanto, Jose, Rodríguez, Inés Sánchez, Sans, Susana, Marina, Loreto Santa, Santacruz, Ethel, Santos, Diana, Santos, Ina, Santos, Lèlita, Santos, Maria Paula, Santos, Osvaldo, Santos, Rute, Santos, Tamara, Saramies, Jouko, Sardinha, Luis, Sarrafzadegan, Nizal, Sathish, Thirunavukkarasu, Saum, Kai-Uwe, Savva, Savvas, Savy, Mathilde, Sawada, Norie, Sbaraini, Mariana, Scazufca, Marcia, Schaan, Beatriz, Rosario, Angelika Schaffrath, Schargrodsky, Herman, Schienkiewitz, Anja, Schindler, Karin, Schipf, Sabine, Schmidt, Carsten, Schmidt, Ida Maria, Schneider, Andrea, Schnohr, Peter, Schöttker, Ben, Schramm, Sara, Schramm, Stine, Schröder, Helmut, Schultsz, Constance, Schulze, Matthias, Schutte, Aletta, Sebert, Sylvain, Sedaghattalab, Moslem, Selamat, Rusidah, Sember, Vedrana, Sen, Abhijit, Senbanjo, Idowu, Sepanlou, Sadaf, Sequera, Guillermo, Serra-Majem, Luis, Servais, Jennifer, Ševčíková, Ľudmila, Shalnova, Svetlana, Shamah-Levy, Teresa, Shamshirgaran, Seyed Morteza, Shanthirani, Coimbatore Subramaniam, Sharafkhah, Maryam, Sharma, Sanjib, Shaw, Jonathan, Shayanrad, Amaneh, Shayesteh, Ali Akbar, Shengelia, Lela, Shi, Zumin, Shibuya, Kenji, Shimizu-Furusawa, Hana, Shimony, Tal, Shiri, Rahman, Shrestha, Namuna, Si-Ramlee, Khairil, Siani, Alfonso, Siantar, Rosalynn, Sibai, Abla, Sidossis, Labros, Silitrari, Natalia, Silva, Antonio, de Moura Silva, Caroline Ramos, Silva, Diego Augusto Santos, Silva, Kelly, Sim, Xueling, Simon, Mary, Simons, Judith, Simons, Leon, Sjöberg, Agneta, Sjöström, Michael, Skoblina, Natalia, Skodje, Gry, Slazhnyova, Tatyana, Slowikowska-Hilczer, Jolanta, Slusarczyk, Przemysław, Smeeth, Liam, So, Hung-Kwan, Soares, Fernanda Cunha, Sobek, Grzegorz, Sobngwi, Eugène, Sodemann, Morten, Söderberg, Stefan, Soekatri, Moesijanti, Soemantri, Agustinus, Sofat, Reecha, Solfrizzi, Vincenzo, Somi, Mohammad Hossein, Sonestedt, Emily, Song, Yi, Soofi, Sajid, Sørensen, Thorkild, Sørgjerd, Elin, Jérome, Charles Sossa, Soto-Rojas, Victoria, Soumaré, Aïcha, Sousa-Poza, Alfonso, Sovic, Slavica, Sparboe-Nilsen, Bente, Sparrenberger, Karen, Spencer, Phoebe, Spinelli, Angela, Spiroski, Igor, Staessen, Jan, Stamm, Hanspeter, Staub, Kaspar, Stavreski, Bill, Steene-Johannessen, Jostein, Stehle, Peter, Stein, Aryeh, Stergiou, George, Stessman, Jochanan, Stevanović, Ranko, Stieber, Jutta, Stöckl, Doris, Stokwiszewski, Jakub, Stoyanova, Ekaterina, Stratton, Gareth, Stronks, Karien, Strufaldi, Maria Wany, Sturua, Lela, Suárez-Medina, Ramón, Suka, Machi, Sun, Chien-An, Sun, Liang, Sundström, Johan, Sung, Yn-Tz, Sunyer, Jordi, Suriyawongpaisal, Paibul, Sweis, Nabil William G., Swinburn, Boyd, Sy, Rody, Sylva, René Charles, Szklo, Moyses, Szponar, Lucjan, Tabone, Lorraine, Tai, E. Shyong, Tambalis, Konstantinos, Tammesoo, Mari-Liis, Tamosiunas, Abdonas, Tan, Eng Joo, Tang, Xun, Tanrygulyyeva, Maya, Tanser, Frank, Tao, Yong, Tarawneh, Mohammed Rasoul, Tarp, Jakob, Tarqui-Mamani, Carolina, Braunerová, Radka Taxová, Taylor, Anne, Taylor, Julie, Tchibindat, Félicité, Te Velde, Saskia, Tebar, William, Tell, Grethe, Tello, Tania, Tham, Yih Chung, Thankappan, K., Theobald, Holger, Theodoridis, Xenophon, Thomas, Nihal, Thorand, Barbara, Thuesen, Betina, Tichá, Ľubica, Timmermans, Erik, Tjandrarini, Dwi, Tjonneland, Anne, Tolonen, Hanna, Tolstrup, Janne, Topbas, Murat, Topór-Mądry, Roman, Torheim, Liv Elin, Tormo, María José, Tornaritis, Michael, Torrent, Maties, Torres-Collado, Laura, Toselli, Stefania, Touloumi, Giota, Traissac, Pierre, Tran, Thi Tuyet-Hanh, Tremblay, Mark, Triantafyllou, Areti, Trichopoulos, Dimitrios, Trichopoulou, Antonia, Trinh, Oanh, Trivedi, Atul, Tsao, Yu-Hsiang, Tshepo, Lechaba, Tsigga, Maria, Tsintavis, Panagiotis, Tsugane, Shoichiro, Tuitele, John, Tuliakova, Azaliia, Tulloch-Reid, Marshall, Tullu, Fikru, Tuomainen, Tomi-Pekka, Tuomilehto, Jaakko, Turley, Maria, Twig, Gilad, Tynelius, Per, Tzala, Evangelia, Tzotzas, Themistoklis, Tzourio, Christophe, Ueda, Peter, Ugel, Eunice, Ukoli, Flora, Ulmer, Hanno, Unal, Belgin, Usupova, Zhamyila, Uusitalo, Hannu, Uysal, Nalan, Vaitkeviciute, Justina, Valdivia, Gonzalo, Vale, Susana, Valvi, Damaskini, van Dam, Rob, van den Born, Bert-Jan, van der Heyden, Johan, van der Schouw, Yvonne, van Herck, Koen, van Lippevelde, Wendy, van Minh, Hoang, van Schoor, Natasja, van Valkengoed, Irene, Vanderschueren, Dirk, Vanuzzo, Diego, Varbo, Anette, Varela-Moreiras, Gregorio, Vargas, Luz Nayibe, Varona-Pérez, Patricia, Vasan, Senthil, Vasques, Daniel, Vega, Tomas, Veidebaum, Toomas, Velasquez-Melendez, Gustavo, Velika, Biruta, Verloigne, Maïté, Veronesi, Giovanni, Verschuren, W., Victora, Cesar, Viegi, Giovanni, Viet, Lucie, Vik, Frøydis, Vilar, Monica, Villalpando, Salvador, Vioque, Jesus, Virtanen, Jyrki, Visvikis-Siest, Sophie, Viswanathan, Bharathi, Vladulescu, Mihaela, Vlasoff, Tiina, Vocanec, Dorja, Vollenweider, Peter, Völzke, Henry, Voutilainen, Ari, Vrijheid, Martine, Vrijkotte, Tanja, Wade, Alisha, Waldhör, Thomas, Walton, Janette, Wambiya, Elvis, Bebakar, Wan Mohamad Wan, Mohamud, Wan Nazaimoon Wan, de Souza Wanderley Júnior, Rildo, Wang, Ming-Dong, Wang, Ningli, Wang, Qian, Wang, Xiangjun, Wang, Ya Xing, Wang, Ying-Wei, Wannamethee, S. Goya, Wareham, Nicholas, Weber, Adelheid, Webster-Kerr, Karen, Wedderkopp, Niels, Weghuber, Daniel, Wei, Wenbin, Weres, Aneta, Werner, Bo, Westbury, Leo, Whincup, Peter, Wickramasinghe, Kremlin, Widhalm, Kurt, Widyahening, Indah, Więcek, Andrzej, Wild, Philipp, Wilks, Rainford, Willeit, Johann, Willeit, Peter, Williams, Julianne, Wilsgaard, Tom, Wojciech, Rusek, Wojtyniak, Bogdan, Wolf, Kathrin, Wong-Mcclure, Roy, Wong, Andrew, Wong, Emily, Wong, Jyh Eiin, Wong, Tien Yin, Woo, Jean, Woodward, Mark, Wu, Frederick, Wu, Hon-Yen, Wu, Jianfeng, Wu, Li Juan, Wu, Shouling, Wyszyńska, Justyna, Xu, Haiquan, Xu, Liang, Yaacob, Nor Azwany, Yamborisut, Uruwan, Yan, Weili, Yang, Ling, Yang, Xiaoguang, Yang, Yang, Yardim, Nazan, Yasuharu, Tabara, García, Martha Yépez, Yiallouros, Panayiotis, Yngve, Agneta, Yoosefi, Moein, Yoshihara, Akihiro, You, Qi Sheng, You, San-Lin, Younger-Coleman, Novie, Yu, Yu-Ling, Yu, Yunjiang, Yusof, Safiah Md, Yusoff, Ahmad Faudzi, Zaccagni, Luciana, Zafiropulos, Vassilis, Zainuddin, Ahmad, Zakavi, Seyed Rasoul, Zamani, Farhad, Zambon, Sabina, Zampelas, Antonis, Zamrazilová, Hana, Zapata, Maria Elisa, Zargar, Abdul Hamid, Zaw, Ko Ko, Zayed, Ayman, Zdrojewski, Tomasz, Żegleń, Magdalena, Zejglicova, Kristyna, Vrkic, Tajana Zeljkovic, Zeng, Yi, Zhang, Luxia, Zhang, Zhen-Yu, Zhao, Dong, Zhao, Ming-Hui, Zhao, Wenhua, Zhecheva, Yanitsa, Zhen, Shiqi, Zheng, Wei, Zheng, Yingfeng, Zholdin, Bekbolat, Zhou, Maigeng, Zhu, Dan, Zins, Marie, Zitt, Emanuel, Zocalo, Yanina, Zoghlami, Nada, Cisneros, Julio Zuñiga, Zuziak, Monika, Bhutta, Zulfiqar, Black, Robert, Ezzati, Majid

المساهمون: Éco-Anthropologie (EA), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: NCD Risk Factor Collaboration (NCD-RisC), [SDV]Life Sciences [q-bio]

الوصف: International audience ; Abstract Optimal growth and development in childhood and adolescence is crucial for lifelong health and well-being 1–6 . Here we used data from 2,325 population-based studies, with measurements of height and weight from 71 million participants, to report the height and body-mass index (BMI) of children and adolescents aged 5–19 years on the basis of rural and urban place of residence in 200 countries and territories from 1990 to 2020. In 1990, children and adolescents residing in cities were taller than their rural counterparts in all but a few high-income countries. By 2020, the urban height advantage became smaller in most countries, and in many high-income western countries it reversed into a small urban-based disadvantage. The exception was for boys in most countries in sub-Saharan Africa and in some countries in Oceania, south Asia and the region of central Asia, Middle East and north Africa. In these countries, successive cohorts of boys from rural places either did not gain height or possibly became shorter, and hence fell further behind their urban peers. The difference between the age-standardized mean BMI of children in urban and rural areas was <1.1 kg m –2 in the vast majority of countries. Within this small range, BMI increased slightly more in cities than in rural areas, except in south Asia, sub-Saharan Africa and some countries in central and eastern Europe. Our results show that in much of the world, the growth and developmental advantages of living in cities have diminished in the twenty-first century, whereas in much of sub-Saharan Africa they have amplified.

العلاقة: hal-04172464; https://hal.science/hal-04172464Test; https://hal.science/hal-04172464/documentTest; https://hal.science/hal-04172464/file/NCD-RisC%20Growth%20in%20rural%20and%20urban%20children%20%28revision%29.pdfTest

الإتاحة: https://doi.org/10.1038/s41586-023-05772-8Test
https://hal.science/hal-04172464Test
https://hal.science/hal-04172464/documentTest
https://hal.science/hal-04172464/file/NCD-RisC%20Growth%20in%20rural%20and%20urban%20children%20%28revision%29.pdfTest

المؤلفون: Grinshpun, Albert, Russo, Douglas, Ma, Wen, Verma, Ana, Hermida-Prado, Francisco, Sherman, Shira, Gaglia, Giorgio, Kabraji, Sheheryar, Kirkner, Gregory, Hughes, Melissa E, Lin, Nancy U, Sandusky, Zachary, Nardone, Agostina, Guarducci, Cristina, Nguyen, Quang-De, Santagata, Sandro, Nagy, Zsuzsanna, Jeselsohn, Rinath

المصدر: NPJ Breast Cancer ; ISSN:2374-4677 ; Volume:10 ; Issue:1

الوصف: The ESR1 ligand binding domain activating mutations are the most prevalent genetic mechanism of acquired endocrine resistance in metastatic hormone receptor-positive breast cancer. These mutations confer endocrine resistance that remains estrogen receptor (ER) dependent. We hypothesized that in the presence of the ER mutations, continued ER blockade with endocrine therapies that target mutant ER is essential for tumor suppression even with chemotherapy treatment. Here, we conducted comprehensive pre-clinical in vitro and in vivo experiments testing the efficacy of adding fulvestrant to fluorouracil (5FU) and the 5FU pro-drug, capecitabine, in models of wild-type (WT) and mutant ER. Our findings revealed that while this combination had an additive effect in the presence of WT-ER, in the presence of the Y537S ER mutation there was synergy. Notably, these effects were not seen with the combination of 5FU and selective estrogen receptor modulators, such as tamoxifen, or in the absence of intact P53. Likewise, in a patient-derived xenograft (PDX) harboring a Y537S ER mutation the addition of fulvestrant to capecitabine potentiated tumor suppression. Moreover, multiplex immunofluorescence revealed that this effect was due to decreased cell proliferation in all cells expressing ER and was not dependent on the degree of ER expression. Taken together, these results support the clinical investigation of the combination of ER antagonists with capecitabine in patients with metastatic hormone receptor-positive breast cancer who have experienced progression on endocrine therapy and targeted therapies, particularly in the presence of an ESR1 activating mutation.

العلاقة: https://doi.org/10.1038/s41523-024-00647-1Test; https://pubmed.ncbi.nlm.nih.gov/38851818Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162492Test/

الإتاحة: https://doi.org/10.1038/s41523-024-00647-1Test
https://pubmed.ncbi.nlm.nih.gov/38851818Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162492Test/

المؤلفون: Marco Borzì, Alfo, Minio, Vittorio, Cannavò, Flavio, Cavallaro, Angelo, D’Amico, Sebastiano, Gauci, Adam, De Plaen, Raphael, Lecocq, Thomas, Nardone, Gabriele, Orasi, Arianna, Picone, Marco, Cannata, Andrea

مصطلحات موضوعية: Microseisms, Severe storms -- Mediterranean region, Environmental monitoring -- Mediterranean region, Weather -- Environmental aspects, Remote sensing, Storms -- Mediterranean region

الوصف: Microseism is the continuous background seismic signal caused by the interaction between the atmosphere, the hydrosphere and the solid Earth. Several studies have dealt with the relationship between microseisms and the tropical cyclones, but none focused on the small-scale tropical cyclones that occur in the Mediterranean Sea, called Medicanes. In this work, we analysed the Medicane Apollo which impacted the eastern part of Sicily during the period 25 October–5 November 2021 causing heavy rainfall, strong wind gusts and violent sea waves. We investigated the microseism accompanying this extreme Mediterranean weather event, and its relationship with the sea state retrieved from hindcast maps and wave buoys. The spectral and amplitude analyses showed the space–time variation of the microseism amplitude. In addition, we tracked the position of Apollo during the time using two different methods: (i) a grid search method; (ii) an array analysis. We obtained a good match between the real position of Apollo and the location constraint by both methods. This work shows that it is possible to extract information on Medicanes from microseisms for both research and monitoring purposes. ; peer-reviewed

العلاقة: Borzì, A. M., Minio, V., Cannavò, F., Cavallaro, A., D’Amico, S., Gauci, A.,.Cannata, A. (2022). Monitoring extreme meteo-marine events in the Mediterranean area using the microseism (Medicane Apollo case study). Scientific Reports, 12(1), 1-14.; https://www.um.edu.mt/library/oar/handle/123456789/108464Test

الإتاحة: https://doi.org/10.1038/s41598-022-25395-9Test
https://www.um.edu.mt/library/oar/handle/123456789/108464Test

المؤلفون: Bixby, H, Bentham, J, Zhou, B, Di Cesare, M, Paciorek, CJ, Bennett, JE, Taddei, C, Stevens, GA, Rodriguez-Martinez, A, Carrillo-Larco, RM, Khang, Y-H, Soric, M, Gregg, EW, Miranda, JJ, Bhutta, ZA, Savin, S, Sophiea, MK, Iurilli, MLC, Solomon, BD, Cowan, MJ, Riley, LM, Danaei, G, Bovet, P, Chirita-Emandi, A, Hambleton, IR, Hayes, AJ, Ikeda, N, Kengne, AP, Laxmaiah, A, Li, Y, McGarvey, ST, Mostafa, A, Neovius, M, Starc, G, Zainuddin, AA, Abarca-Gomez, L, Abdeen, ZA, Abdrakhmanova, S, Ghaffar, SA, Hamid, ZA, Garba, JA, Abu-Rmeileh, NM, Acosta-Cazares, B, Adams, RJ, Aekplakorn, W, Afsana, K, Agdeppa, IA, Aguilar-Salinas, CA, Agyemang, C, Ahmad, MH, Ahmad, NA, Ahmadi, N, Ahmadvand, A, Ahrens, W, Ajlouni, K, AlBuhairan, F, AlDhukair, S, Al-Hazzaa, HM, Ali, MM, Ali, O, Alkerwi, A, Al-Othman, AR, Al-Raddadi, R, Alvarez-Pedrerol, M, Aly, E, Amarapurkar, DN, Amouyel, P, Amuzu, A, Bo, L, Anderssen, SA, Angquist, LH, Anjana, RM, Ansari-Moghaddam, A, Aounallah-Skhiri, H, Araujo, J, Ariansen, I, Aris, T, Arku, RE, Arlappa, N, Aryal, KK, Aspelund, T, Assah, FK, Assuncao, MCF, Aung, MS, Auvinen, J, Avdicova, M, Azevedo, A, Azizi, F, Azmin, M, Babu, BV, Baharudin, A, Bahijri, S, Baker, JL, Balakrishna, N, Bamoshmoosh, M, Banach, M, Bandosz, P, Banegas, JR, Barbagallo, CM, Barcelo, A, Barkat, A, Barros, AJD, Barros, MVG, Bata, I, Batieha, AM, Batista, RL, Battakova, Z, Batyrbek, A, Baur, LA, Beaglehole, R, Bel-Serrat, S, Ben Romdhane, H, Benedics, J, Benet, M, Berkinbayev, S, Bernabe-Ortiz, A, Bernotiene, G, Bettiol, H, Bhagyalaxmi, A, Bharadwaj, S, Bhargava, SK, Bi, H, Bi, Y, Biehl, A, Lele, ECB, Bikbov, M, Bista, B, Bjelica, DJ, Bjerregaard, P, Bjertness, E, Bjertness, MB, Bjorkelund, C, Blokstra, A, Bo, S, Bobak, M, Boddy, LM, Boehm, BO, Boeing, H, Boggia, JG, Boissonnet, CP, Bonaccio, M, Bongard, V, Bopp, M, Borchini, R, Borghs, H, Braeckevelt, L, Braeckman, L, Bragt, MCE, Brajkovich, I, Branca, F, Breckenkamp, J, Breda, J, Brenner, H, Brewster, LM, Brian, GR, Brinduse, L, Bruno, G, Bueno-de-Mesquita, HB, Bugge, A, Buoncristiano, M, Burazeri, G, Burns, C, Cabrera de Leon, A, Cacciottolo, J, Cai, H, Cama, T, Cameron, C, Camolas, J, Can, G, Candido, APC, Canete, F, Capanzana, MV, Capuano, E, Capuano, V, Cardoso, VC, Carlsson, AC, Carmuega, E, Carvalho, MJ, Casanueva, FF, Casas, J-P, Caserta, CA, Celikcan, E, Censi, L, Cesar, JA, Chamukuttan, S, Chan, AW, Chan, Q, Chaturvedi, HK, Chaturvedi, N, Rahim, NCA, Chen, C-J, Chen, F, Chen, H, Chen, S, Chen, Z, Cheng, C-Y, Cheng, YJ, Chetrit, A, Chikova-Iscener, E, Chiolero, A, Chiou, S-T, Chirlaque, M-D, Cho, B, Cho, Y, Christensen, K, Christofaro, DG, Chudek, J, Cifkova, R, Cilia, M, Cinteza, E, Claessens, F, Clarke, J, Clays, E, Concin, H, Confortin, SC, Cooper, C, Coppinger, TC, Costanzo, S, Cottel, D, Cowell, C, Craig, CL, Crampin, AC, Crujeiras, AB, Cruz, JJ, Cucu, A, Cui, L, Dallongeville, J, Damasceno, A, Damsgaard, CT, Dankner, R, Dantoft, TM, D'Arrigo, G, Dasgupta, P, Dastgiri, S, Dauchet, L, Davletov, K, De Backer, G, De Bacquer, D, De Curtis, A, de Gaetano, G, De Henauw, S, de Oliveira, PD, De Ridder, K, de Rooij, SR, De Smedt, D, Deepa, M, Deev, AD, Dehghan, A, Delisle, H, Delpeuch, F, Dennison, E, Deschamps, V, Dhana, K, Dhimal, M, Di Castelnuovo, AF, Dias-da-Costa, JS, Diaz, A, Dika, Z, Djalalinia, S, Do, HTP, Dobson, AJ, Donati, MB, Donfrancesco, C, Donoso, SP, Doering, A, Dorobantu, M, Dorosty, AR, d'Orsi, E, Doua, K, Drygas, W, Duan, JL, Duante, CA, Duda, RB, Duleva, V, Dulskiene, V, Dumith, SC, Dzerve, V, Dziankowska-Zaborszczyk, E, Eddie, R, Egbagbe, EE, Eggertsen, R, Eiben, G, Ekelund, U, El Ati, J, Eldemire-Shearer, D, Eliasen, M, Elliott, P, Engle-Stone, R, Erasmus, RT, Erem, C, Eriksen, L, Eriksson, JG, Escobedo-de la Pena, J, Evans, A, Faeh, D, Fall, CH, Sant'Angelo, VF, Farzadfar, F, Fattahi, MR, Felix-Redondo, FJ, Ferguson, TS, Fernandes, RA, Fernandez-Berges, D, Ferrante, D, Ferrari, M, Ferreccio, C, Ferrer, E, Ferrieres, J, Fijalkowska, A, Fink, G, Fischer, K, Flores, EM, Foeger, B, Foo, LH, Forslund, A-S, Forsner, M, Fouad, HM, Francis, DK, Franco, MDC, Franco, OH, Frontera, G, Fuchs, FD, Fuchs, SC, Fujita, Y, Furusawa, T, Gaciong, Z, Gafencu, M, Galeone, D, Galvano, F, Gao, J, Garcia-de-la-Hera, M, Gareta, D, Garnett, SP, Gaspoz, J-M, Gasull, M, Gates, L, Gazzinelli, A, Geiger, H, Geleijnse, JM, Ghanbari, A, Ghasemi, E, Ghasemian, A, Gheorghe-Fronea, O-F, Giampaoli, S, Gianfagna, F, Gill, TK, Giovannelli, J, Gironella, G, Giwercman, A, Godos, J, Gogen, S, Goldsmith, RA, Goltzman, D, Goncalves, H, Gonzalez, AR, Gonzalez-Chica, DA, Gonzalez-Gross, M, Gonzalez-Leon, M, Gonzalez-Rivas, JP, Gonzalez-Villalpando, M-E, Gottrand, F, Graca, AP, Graff-Iversen, S, Grafnetter, D, Grajda, A, Grammatikopoulou, MG, Gregor, RD, Grodzicki, T, Grontved, A, Grosso, G, Gruden, G, Gu, D, Gualdi-Russo, E, Gudmundsson, EF, Gudnason, V, Guerrero, R, Guessous, I, Guimaraes, AL, Gulliford, MC, Gunnlaugsdottir, J, Gunter, M, Guo, X, Guo, Y, Gupta, PC, 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المصدر: Nature , 569 pp. 260-264. (2019)

مصطلحات موضوعية: Epidemiology, Risk factors

الوصف: Body-mass index (BMI) has increased steadily in most countries in parallel with a rise in the proportion of the population who live in cities. This has led to a widely reported view that urbanization is one of the most important drivers of the global rise in obesity. Here we use 2,009 population-based studies, with measurements of height and weight in more than 112 million adults, to report national, regional and global trends in mean BMI segregated by place of residence (a rural or urban area) from 1985 to 2017. We show that, contrary to the dominant paradigm, more than 55% of the global rise in mean BMI from 1985 to 2017—and more than 80% in some low- and middle-income regions—was due to increases in BMI in rural areas. This large contribution stems from the fact that, with the exception of women in sub-Saharan Africa, BMI is increasing at the same rate or faster in rural areas than in cities in low- and middle-income regions. These trends have in turn resulted in a closing—and in some countries reversal—of the gap in BMI between urban and rural areas in low- and middle-income countries, especially for women. In high-income and industrialized countries, we noted a persistently higher rural BMI, especially for women. There is an urgent need for an integrated approach to rural nutrition that enhances financial and physical access to healthy foods, to avoid replacing the rural undernutrition disadvantage in poor countries with a more general malnutrition disadvantage that entails excessive consumption of low-quality calories.

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10075003/1/s41586-019-1171-x.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10075003Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10075003/1/s41586-019-1171-x.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10075003Test/

المؤلفون: Turco E. M., Giovenale A. M. G., Sireno L., Mazzoni M., Cammareri A., Marchioretti C., Goracci L., Di Veroli A., Marchesan E., D'Andrea D., Falconieri A., Torres B., Bernardini L., Magnifico M. C., Paone A., Rinaldo S., Della Monica M., D'Arrigo S., Postorivo D., Nardone A. M., Zampino G., Onesimo R., Leoni C., Caicci F., Raimondo D., Binda E., Trobiani L., De Jaco A., Tata A. M., Ferrari D., Cutruzzola F., Mazzoccoli G., Ziviani E., Pennuto M., Vescovi A. L., Rosati J.

المساهمون: Turco, E, Giovenale, A, Sireno, L, Mazzoni, M, Cammareri, A, Marchioretti, C, Goracci, L, Di Veroli, A, Marchesan, E, D'Andrea, D, Falconieri, A, Torres, B, Bernardini, L, Magnifico, M, Paone, A, Rinaldo, S, Della Monica, M, D'Arrigo, S, Postorivo, D, Nardone, A, Zampino, G, Onesimo, R, Leoni, C, Caicci, F, Raimondo, D, Binda, E, Trobiani, L, De Jaco, A, Tata, A, Ferrari, D, Cutruzzola, F, Mazzoccoli, G, Ziviani, E, Pennuto, M, Vescovi, A, Rosati, J

مصطلحات موضوعية: Autophagy genetic, Haploinsufficiency genetic, Human, Lipid Metabolism genetic, Lipid, Phenotype, Smith-Magenis Syndrome diagnosi, Smith-Magenis Syndrome genetic, Smith-Magenis Syndrome pathology, Trans-Activators metabolism, Transcription Factors metabolism, Tretinoin metabolism, Tretinoin pharmacology

الوصف: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs due to haploinsufficiency of the retinoic acid-induced-1 (RAI1) gene caused by either chromosomal deletion (SMS-del) or RAI1 missense/nonsense mutation. The molecular mechanisms underlying SMS are unknown. Here, we generated and characterized primary cells derived from four SMS patients (two with SMS-del and two carrying RAI1 point mutations) and four control subjects to investigate the pathogenetic processes underlying SMS. By combining transcriptomic and lipidomic analyses, we found altered expression of lipid and lysosomal genes, deregulation of lipid metabolism, accumulation of lipid droplets, and blocked autophagic flux. We also found that SMS cells exhibited increased cell death associated with the mitochondrial pathology and the production of reactive oxygen species. Treatment with N-acetylcysteine reduced cell death and lipid accumulation, which suggests a causative link between metabolic dyshomeostasis and cell viability. Our results highlight the pathological processes in human SMS cells involving lipid metabolism, autophagy defects and mitochondrial dysfunction and suggest new potential therapeutic targets for patient treatment.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36411275; info:eu-repo/semantics/altIdentifier/wos/WOS:000886207500001; volume:13; issue:11; journal:CELL DEATH & DISEASE; https://hdl.handle.net/10281/397819Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142392229

الإتاحة: https://doi.org/10.1038/s41419-022-05410-7Test
https://hdl.handle.net/10281/397819Test

المؤلفون: Nardone, Giorgia, La Cruz, Jorge Oliver-De, Vrbsky, Jan, Martini, Cecilia, Pribyl, Jan, Skladal, Petr, Pesl, Martin, Caluori, Guido, Pagliari, Stefania, Martino, Fabiana, Maceckova, Zuzana, Hajduch, Marian, Sanz-Garcia, Andres, Pugno, Nicola Maria, Stokin, Gorazd Bernard, Forte, Giancarlo

المساهمون: Faculty of Pharmacy, University of Helsinki, Division of Pharmaceutical Biosciences

مصطلحات موضوعية: SELF-RENEWAL, HIPPO, MIGRATION, PATHWAY, RAC, YAP/TAZ, BINDING, PROTEIN, RHO, MECHANOTRANSDUCTION, 317 Pharmacy

الوصف: Hippo effectors YAP/TAZ act as on-off mechanosensing switches by sensing modifications in extracellular matrix (ECM) composition and mechanics. The regulation of their activity has been described by a hierarchical model in which elements of Hippo pathway are under the control of focal adhesions (FAs). Here we unveil the molecular mechanism by which cell spreading and RhoA GTPase activity control FA formation through YAP to stabilize the anchorage of the actin cytoskeleton to the cell membrane. This mechanism requires YAP co-transcriptional function and involves the activation of genes encoding for integrins and FA docking proteins. Tuning YAP transcriptional activity leads to the modification of cell mechanics, force development and adhesion strength, and determines cell shape, migration and differentiation. These results provide new insights into the mechanism of YAP mechanosensing activity and qualify this Hippo effector as the key determinant of cell mechanics in response to ECM cues. ; Peer reviewed

وصف الملف: application/pdf

العلاقة: The work was supported by the projects no. LQ1605, LQ1601 and LO1304 from the National Program of Sustainability II or I respectively (MEYS CR), by the project FNUSA-ICRC number CZ.1.05/1.1.00/02.0123 (OP VaVpI) and by CEITEC-Central European Institute of Technology (CZ.1.05/1.1.00/02.0068) from the European Regional Development Fund. Moreover, the work was supported by the European Social Fund and European Regional Development Fund-Project MAGNET (Number CZ.02.1.01/0.0/0.0/15_003/0000492). We are grateful to Katerina Melajova for helping with cell culture, transfection and western blotting, Carmen Escobedo-Lucea for critical reading, Federico Tidu for scanning electron microscopy analysis and Enrico Cenni for helping with image analysis. N.M.P. is supported by the European Research Council PoC 2015 'Silkene' No. 693670, by the European Commission H2020 under the Graphene Flagship Core 1 No. 696656 (WP14 'Polymer Nanocomposites') and under the FET Proactive 'Neurofibres' No. 732344.; Nardone , G , La Cruz , J O-D , Vrbsky , J , Martini , C , Pribyl , J , Skladal , P , Pesl , M , Caluori , G , Pagliari , S , Martino , F , Maceckova , Z , Hajduch , M , Sanz-Garcia , A , Pugno , N M , Stokin , G B & Forte , G 2017 , ' YAP regulates cell mechanics by controlling focal adhesion assembly ' , Nature Communications , vol. 8 , 15321 . https://doi.org/10.1038/ncomms15321Test; ORCID: /0000-0003-0413-4965/work/33744932; 85019410130; bcfbf421-83ef-4bb1-aaec-cc13ec36587a; http://hdl.handle.net/10138/188600Test; 000401279200001

الإتاحة: http://hdl.handle.net/10138/188600Test

المؤلفون: Kentaro Yamaguchi, Eri H. Hayakawa, Glenn Nardone, Masahiro Mori

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Erythrocytes, Plasmodium falciparum, Cell, lcsh:Medicine, 01 natural sciences, Article, 010309 optics, 03 medical and health sciences, chemistry.chemical_compound, 0103 physical sciences, parasitic diseases, medicine, Animals, Humans, Parasite hosting, Malaria, Falciparum, lcsh:Science, Multidisciplinary, biology, Chemistry, Cholesterol, lcsh:R, Membrane transport, biology.organism_classification, Endocytosis, Molecular Imaging, Cell biology, Parasite biology, Cytosol, 030104 developmental biology, Membrane, medicine.anatomical_structure, Cholesterol import, lipids (amino acids, peptides, and proteins), lcsh:Q, Structural biology

الوصف: Cholesterol, a necessary component of animal cell membranes, is also needed by the lethal human malaria parasite Plasmodium falciparum. Because P. falciparum lacks a cholesterol synthesis pathway and malaria patients have low blood cholesterol, we speculated that it scavenges cholesterol from them in some way. We used time-lapse holotomographic microscopy to observe cholesterol transport in live P. falciparum parasites and structurally investigate erythrocyte membranes, both during and after P. falciparum invasion of human erythrocytes. After P. falciparum initially acquired free cholesterol or inner erythrocytic membrane-derived cholesterol, we observed budding lipid membranes elongating into the cytosol and/or membrane segments migrating there and eventually fusing with the parasite membranes, presumably at the parasitophorous vacuole membrane (PVM). Finally, the cholesterol-containing segments were seen to surround the parasite nucleus. Our imaging data suggest that a novel membrane transport system operates in the cytosol of P. falciparum-infected erythrocytes as a cholesterol import system, likely between the PVM and the erythrocyte membrane, and that this transportation process occurs during the live erythrocyte stages of P. falciparum.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cee8c6d0cb9e8c1f88f4c71cf68ded6Test
http://link.springer.com/article/10.1038/s41598-020-59552-9Test

المؤلفون: Benhabib, S., Lupien, C., Paul, I., Berges, L., Dion, M., Nardone, Marc, Zitouni, Abdelaziz, Mao, Z., Maeno, Y., Georges, A., Taillefer, L., Proust, C.

المساهمون: Laboratoire national des champs magnétiques intenses - Toulouse (LNCMI-T), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Institut Quantique Sherbrooke (UdeS), Université de Sherbrooke (UdeS), Laboratoire Matériaux et Phénomènes Quantiques (MPQ (UMR_7162)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre de Physique Théorique Palaiseau (CPHT), École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Physique de la matière condensée (A. Georges), Collège de France (CdF (institution)), ANR-19-CE30-0019,neptun,Nouvelles approches du problème des supraconducteurs à haute température(2019)

المصدر: ISSN: 1745-2473.

مصطلحات موضوعية: [PHYS.COND.CM-S]Physics [physics]/Condensed Matter [cond-mat]/Superconductivity [cond-mat.supr-con]

الوصف: International audience

العلاقة: info:eu-repo/semantics/altIdentifier/arxiv/2002.05916; hal-03060549; https://hal.science/hal-03060549Test; ARXIV: 2002.05916

الإتاحة: https://doi.org/10.1038/s41567-020-1033-3Test
https://hal.science/hal-03060549Test

المؤلفون: Corey Rogers, Dan A. Erkes, Alexandria Nardone, Andrew E. Aplin, Teresa Fernandes-Alnemri, Emad S. Alnemri

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Science, lcsh:Q, lcsh:Science

الوصف: Gasdermins mediate lytic cell death by forming pores in the plasma membrane. Here the authors show that gasdermins also permeabilize mitochondrial membrane, thereby facilitating intrinsic apoptosis pathway, downstream of apoptotic (Gasdermin E) and inflammatory (Gasdermin D) caspase activation.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09aaea389ad2a57d4cf240021a851ab4Test
http://link.springer.com/article/10.1038/s41467-019-09397-2Test