Cortical Granule Exocytosis Is Mediated by Alpha-SNAP and N-Ethilmaleimide Sensitive Factor in Mouse Oocytes

ανά de Paola, Matilde, Bello, Oscar Daniel, Michaut, Marcela Alejandra
Τόπος έκδοσης PLoS One (2015)

RIM, Munc13, and Rab3A Interplay in Acrosomal Exocytosis

ανά Bello, Oscar D., Zanetti, M. Natalia, Mayorga, Luis S., Michaut, Marcela A.
Έκδοση 2012

Using ApoE-Nanolipoprotein Particles to Analyze SNARE-Induced Fusion Pores

ανά Bello, Oscar D., Auclair, Sarah M., Rothman, James E., Krishnakumar, Shyam S.
Τόπος έκδοσης Langmuir (2016)

Nanodisc-cell fusion: control of fusion pore nucleation and lifetimes by SNARE protein transmembrane domains

ανά Wu, Zhenyong, Auclair, Sarah M., Bello, Oscar, Vennekate, Wensi, Dudzinski, Natasha R., Krishnakumar, Shyam S., Karatekin, Erdem
Τόπος έκδοσης Sci Rep (2016)

Circular oligomerization is an intrinsic property of synaptotagmin

ανά Wang, Jing, Li, Feng, Bello, Oscar D, Sindelar, Charles Vaughn, Pincet, Frédéric, Krishnakumar, Shyam S, Rothman, James E
Τόπος έκδοσης eLife (2017)

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

ανά Vivekananda, Umesh, Novak, Pavel, Bello, Oscar D., Korchev, Yuri E., Krishnakumar, Shyam S., Volynski, Kirill E., Kullmann, Dimitri M.
Τόπος έκδοσης Proc Natl Acad Sci U S A (2017)

Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain

ανά Gruget, Clémence, Bello, Oscar, Coleman, Jeff, Krishnakumar, Shyam S., Perez, Eric, Rothman, James E., Pincet, Frederic, Donaldson, Stephen H.
Τόπος έκδοσης Sci Rep (2020)

Dilation of fusion pores by crowding of SNARE proteins

ανά Wu, Zhenyong, Bello, Oscar D, Thiyagarajan, Sathish, Auclair, Sarah Marie, Vennekate, Wensi, Krishnakumar, Shyam S, O'Shaughnessy, Ben, Karatekin, Erdem
Τόπος έκδοσης eLife (2017)

Ring-like oligomers of Synaptotagmins and related C2 domain proteins

ανά Zanetti, Maria N, Bello, Oscar D, Wang, Jing, Coleman, Jeff, Cai, Yiying, Sindelar, Charles V, Rothman, James E, Krishnakumar, Shyam S
Τόπος έκδοσης eLife (2016)

Calcium sensitive ring-like oligomers formed by synaptotagmin

ανά Wang, Jing, Bello, Oscar, Auclair, Sarah M., Wang, Jing, Coleman, Jeff, Pincet, Frederic, Krishnakumar, Shyam S., Sindelar, Charles V., Rothman, James E.
Έκδοση 2014

Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs

ανά BELLO, Oscar Daniel, CAPPA, Andrea Isabel, de PAOLA, Matilde, ZANETTI, María Natalia, FUKUDA, Mitsunori, FISSORE, Rafael A., MAYORGA, Luis S., MICHAUT, Marcela A.
Τόπος έκδοσης Exp Cell Res (2016)

Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release

ανά Tagliatti, Erica, Bello, Oscar D., Mendonça, Philipe R. F., Kotzadimitriou, Dimitrios, Nicholson, Elizabeth, Coleman, Jeff, Timofeeva, Yulia, Rothman, James E., Krishnakumar, Shyam S., Volynski, Kirill E.
Τόπος έκδοσης Proc Natl Acad Sci U S A (2020)

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

ανά Chelban, Viorica, Patel, Nisha, Vandrovcova, Jana, Zanetti, M. Natalia, Lynch, David S., Ryten, Mina, Botía, Juan A., Bello, Oscar, Tribollet, Eloise, Efthymiou, Stephanie, Davagnanam, Indran, Bashiri, Fahad A., Wood, Nicholas W., Rothman, James E., Alkuraya, Fowzan S., Houlden, Henry
Τόπος έκδοσης Am J Hum Genet (2017)

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

ανά Salpietro, Vincenzo, Efthymiou, Stephanie, Manole, Andreea, Maurya, Bhawana, Wiethoff, Sarah, Ashokkumar, Balasubramaniem, Cutrupi, Maria Concetta, Dipasquale, Valeria, Manti, Sara, Botia, Juan A., Ryten, Mina, Vandrovcova, Jana, Bello, Oscar D., Bettencourt, Conceicao, Mankad, Kshitij, Mukherjee, Ashim, Mutsuddi, Mousumi, Houlden, Henry
Τόπος έκδοσης Hum Mutat (2017)

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

ανά Salpietro, Vincenzo, Lin, Weichun, Vedove, Andrea Delle, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry
Τόπος έκδοσης Ann Neurol (2017)

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

ανά Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, Houlden, Henry
Τόπος έκδοσης Brain (2017)

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

ανά Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry
Τόπος έκδοσης Brain (2020)

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

ανά Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Τόπος έκδοσης Am J Hum Genet (2019)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

ανά Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry
Τόπος έκδοσης Ann Neurol (2019)

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

ανά Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Τόπος έκδοσης Nat Commun (2019)