Bello, Oscar Daniel

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-20 de 20

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

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 Daniel ; Bettencourt, Conceicao; Mankad, Kshitij; Mukherjee, Ashim; Mutsuddi, Mousumi; Houlden, Henry (Wiley-liss, div John Wiley & Sons Inc., 2018-02)
Artículo Calcium sensitive ring-like oligomers formed by synaptotagmin

Wang, Jing; Bello, Oscar Daniel ; Auclair, Sarah M.; Coleman, Jeff; Pincet, Frederic; Krishnakumar, Shyam S.; Sindelar, Charles V.; Rothman, James E. (National Academy of Sciences, 2014-09)
Artículo Circular oligomerization is an intrinsic property of synaptotagmin

Wang, Jing; Li, Feng; Bello, Oscar Daniel ; Sindelar, Charles Vaughn; Pincet, Frédéric; Krishnakumar, Shyam S.; Rothman, James E. (eLife Sciences Publications, 2017-08)
Artículo Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Manole, Andreea; Jaunmuktane, Zane; Hargreaves, Iain; Ludtmann, Marthe H. R.; Salpietro, Vincenzo; Bello, Oscar Daniel ; 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 (Oxford University Press, 2017-11)
Artículo Cortical granule exocytosis is mediated by alpha-SNAP and N-Ethilmaleimide sensitive factor in mouse eggs

de Paola, Maria Matilde ; Bello, Oscar Daniel ; Michaut, Marcela Alejandra (Public Library of Science, 2015-08-12)
Artículo Dilation of fusion pores by crowding of SNARE proteins

Wu, Zhenyong; Bello, Oscar Daniel ; Thiyagarajan, Sathish; Auclair, Sarah Marie; Vennekate, Wensi; Krishnakumar, Shyam S; O'Shaughnessy, Ben; Karatekin, Erdem (eLife Sciences Publications, 2017-03)
Artículo Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria Natalia ; Bello, Oscar Daniel ; 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 (Oxford University Press, 2020-08)
Artículo Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Salpietro, Vincenzo; Lin, Weichun; Delle Vedove, Andrea; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S.; Pitt, Matthew; Bello, Oscar Daniel ; Rothman, James E.; Basel Vanagaite, Lina; Weisz Hubshman, Monika; Aharoni, Sharon; Manzur, Adnan Y.; Wirth, Brunhilde; Houlden, Henry (Wiley-liss, div John Wiley & Sons Inc., 2017-04)
Artículo Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

Vivekananda, Umesh; Novak, Pavel; Bello, Oscar Daniel ; Korchev, Yuri E.; Krishnakumar, Shyam S.; Volynski, Kirill E.; Kullmann, Dimitri M. (National Academy of Sciences, 2017-02)
Artículo Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Chelban, Viorica; Patel, Nisha; Vandrovcova, Jana; Zanetti, Maria Natalia ; Lynch, David S.; Ryten, Mina; Botía, Juan A.; Bello, Oscar Daniel ; Tribollet, Eloise; Efthymiou, Stephanie; Davagnanam, Indran; Bashiri, Fahad A.; Wood, Nicholas W.; Rothman, James E.; Alkuraya, Fowzan S.; Houlden, Henry (Cell Press, 2017-06)
Artículo Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; Striano, Pasquale; Vandrovcova, Jana; Cutrupi, Maria Concetta; Chimenz, Roberto; David, Emanuele; Di Rosa, Gabriella; Marce Grau, Anna; Raspall Chaure, Miquel; Martin Hernandez, Elena; Zara, Federico; Minetti, Carlo; Bello, Oscar Daniel ; De Zorzi, Rita; Fortuna, Sara; Dauber, Andrew; Alkhawaja, Mariam; Sultan, Tipu; Mankad, Kshitij; Vitobello, Antonio; Thomas, Quentin; Tran Mau Them, Frederic; Faivre, Laurence; Martinez Azorin, Francisco; Prada, Carlos E.; Macaya, Alfons (Cell Press, 2019-03)
Artículo Nanodisc-cell fusion: Control of fusion pore nucleation and lifetimes by SNARE protein transmembrane domains

Wu, Zhenyong; Auclair, Sarah M.; Bello, Oscar Daniel ; Vennekate, Wensi; Dudzinski, Natasha R.; Krishnakumar, Shyam S.; Karatekin, Erdem (Nature Publishing Group, 2016-06)
Artículo PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, Maria 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 Daniel ; 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 (Wiley-liss, div John Wiley & Sons Inc., 2019-07-11)
Artículo Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs

Bello, Oscar Daniel ; Cappa, Andrea Isabel; de Paola, Maria Matilde ; Zanetti, Maria Natalia ; Fukuda, Mitsunori; Fissore, Rafael A.; Mayorga, Luis Segundo ; Michaut, Marcela Alejandra (Elsevier Inc, 2016-09)
Artículo Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg2+ and Ca2+

Gruget, Clémence; Coleman, Jeff; Bello, Oscar Daniel ; Krishnakumar, Shyam S.; Perez, Eric; Rothman, James E.; Pincet, Frederic; Donaldson, Stephen H. Jr. (Elsevier Science, 2018-04)
Artículo Ring-like oligomers of synaptotagmins and related C2 domain proteins

Zanetti, Maria Natalia ; Bello, Oscar Daniel ; Wang, Jing; Coleman, Jeff; Cai, Yiying; Sindelar, Charles V.; Rothman, James E.; Krishnakumar, Shyam S. (eLife Sciences Publications, 2016-07)
Artículo Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release

Tagliatti, Erica; Bello, Oscar Daniel ; Mendonça, Philipe R. F.; Kotzadimitriou, Dimitrios; Nicholson, Elizabeth; Coleman, Jeff; Timofeeva, Yulia; Rothman, James E.; Krishnakumar, Shyam S.; Volynski, Kirill E. (National Academy of Sciences, 2020-02)
Artículo Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis

Bello, Oscar Daniel ; Jouannot, Ouardane; Chaudhuri, Arunima; Stroeva, Ekaterina; Coleman, Jeff; Volynski, Kirill E.; Rothman, James E.; Krishnakumar, Shyam S. (National Academy of Sciences, 2018-08)
Artículo Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain

Gruget, Clémence; Bello, Oscar Daniel ; Coleman, Jeff; Krishnakumar, Shyam S.; Perez, Eric; Rothman, James E.; Pincet, Frederic; Donaldson, Stephen H. (Nature, 2020-10)
Artículo Using ApoE Nanolipoprotein Particles to Analyze SNARE-Induced Fusion Pores

Bello, Oscar Daniel ; Auclair, Sarah M.; Rothman, James E.; Krishnakumar, Shyam S. (American Chemical Society, 2016-03)

Mostrando ítems 1-20 de 20