The Autophagy-Cilia Axis: An Intricate Relationship

por Morleo, Manuela, Franco, Brunella
Publicado 2019

The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle

por Morleo, Manuela, Franco, Brunella
Publicado 2021

A network-based approach to dissect the cilia/centrosome complex interactome

por Amato, Roberto, Morleo, Manuela, Giaquinto, Laura, di Bernardo, Diego, Franco, Brunella
Publicado 2014

The HOPS complex subunit VPS39 controls ciliogenesis through autophagy

por Iaconis, Daniela, Crina, Claudia, Brillante, Simona, Indrieri, Alessia, Morleo, Manuela, Franco, Brunella
Publicado 2020

Crosstalk between cilia and autophagy: implication for human diseases

por Morleo, Manuela, Vieira, Helena L.A., Pennekamp, Petra, Palma, Alessandro, Bento-Lopes, Liliana, Omran, Heymut, Lopes, Susana S., Barral, Duarte C., Franco, Brunella
Publicado 2022

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

por Mandato, Claudia, Siano, Maria Anna, Nazzaro, Lucia, Gelzo, Monica, Francalanci, Paola, Rizzo, Francesca, D’Agostino, Ylenia, Morleo, Manuela, Brillante, Simona, Weisz, Alessandro, Franco, Brunella, Vajro, Pietro
Publicado 2021

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

por Jiao, Xianru, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, D’Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Gong, Pan, Grand, Katheryn, Sanchez-Lara, Pedro A., Krier, Joel, Fieg, Elizabeth, Stergachis, Andrew, Wang, Xiaodong, Yang, Zhixian
Publicado 2020

The TBC1D31/praja2 complex controls primary ciliogenesis through PKA‐directed OFD1 ubiquitylation

por Senatore, Emanuela, Chiuso, Francesco, Rinaldi, Laura, Intartaglia, Daniela, Delle Donne, Rossella, Pedone, Emilia, Catalanotti, Bruno, Pirone, Luciano, Fiorillo, Bianca, Moraca, Federica, Giamundo, Giuliana, Scala, Giovanni, Raffeiner, Andrea, Torres‐Quesada, Omar, Stefan, Eduard, Kwiatkowski, Marcel, van Pijkeren, Alienke, Morleo, Manuela, Franco, Brunella, Garbi, Corrado, Conte, Ivan, Feliciello, Antonio
Publicado 2021

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

por Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo
Publicado 2023

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

por Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T., Texier, Yves, van Beersum, Sylvia E. C., Horn, Nicola, Willer, Jason R., Mans, Dorus A., Dougherty, Gerard, Lamers, Ideke J. C., Coene, Karlien L. M., Arts, Heleen H., Betts, Matthew J., Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J. F., Marcelis, Carlo L., Mitic, Dragana, Morleo, Manuela, Oud, Machteld M., Riemersma, Moniek, Rix, Susan, Terhal, Paulien A., Toedt, Grischa, van Dam, Teunis J. P., de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L., Blacque, Oliver E., Gibson, Toby J., Huynen, Martijn A., Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E., Franco, Brunella, Giles, Rachel H., Ueffing, Marius, Russell, Robert B., Roepman, Ronald
Publicado 2016

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023