DE PAOLA, MATILDE; GARRIDO, FACUNDO; ZANETTI MARIA NATALIA; MICHAUT, MARCELA A.

VAMPs sensitive to tetanus toxin are required for cortical granule exocytosis in mouse oocytes

EXPERIMENTAL CELL RESEARCH; Lugar: Amsterdam ; Año: 2021

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

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

BRAIN; Año: 2020 vol. 143 p. 2388 - 2397

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; KRIOUILE, YAMNA; EL KHORASSANI, MOHAMED; AGUENNOUZ, MHAMMED; KARASHOVA, BLAGOVESTA; AVDJIEVA, DANIELA; KATHOM, HADIL; TINCHEVA, RADKA; VAN MALDERGEM, LIONEL; NACHBAUER, WOLFGANG; BOESCH, SYLVIA; ARNING, LARISSA; TIMMANN, DAGMAR; CORMAND, BRU; PÉREZ-DUEÑAS, BELEN; PIRONTI, ERICA; GORAYA, JATINDER S.; SULTAN, TIPU; KIRMANI, SALMAN; IBRAHIM, SHAHNAZ; JAN, FARIDA; MINE, JUN; BANU, SELINA; VEGGIOTTI, PIERANGELO; FERRARI, MICHEL D.; VERROTTI, ALBERTO; MARSEGLIA, GIAN LUIGI; SAVASTA, SALVATORE; GARAVAGLIA, BARBARA; SCUDERI, CARMELA; BORGIONE, EUGENIA; DIPASQUALE, VALERIA; CUTRUPI, MARIA CONCETTA; PORTARO, SIMONA; SANCHEZ, BENIGNO MONTEAGUDO; PINEDA-MARFA, MERCEDES; MUNELL, FRANCINA; MACAYA, ALFONS;

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

AMERICAN JOURNAL OF HUMAN GENETICS; Año: 2019 vol. 104 p. 721 - 730

CHELBAN, VIORICA; WILSON, MATTHEW P.; WARMAN CHARDON, JODI; VANDROVCOVA, JANA; ZANETTI, M. NATALIA (TERCER AUTOR); 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

PDXK mutations cause polyneuropathy responsive to PLP supplementation

ANNALS OF NEUROLOGY; Lugar: New York; Año: 2019

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,

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

NATURE COMMUNICATIONS; Año: 2019 vol. 10

COLEMAN, JEFF; JOUANNOT, OUARDANE; RAMAKRISHNAN, SATHISH K.; ZANETTI, MARIA N. (TERCER AUTOR); WANG, JING; SALPIETRO, VINCENZO; HOULDEN, HENRY; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

Cell Reports; Año: 2018 vol. 22 p. 820 - 831

CHELBAN, VIORICA; PATEL, NISHA; VANDROVCOVA, JANA; ZANETTI, M. NATALIA (TERCER AUTOR); 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

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

AMERICAN JOURNAL OF HUMAN GENETICS; Lugar: United States; Año: 2017 vol. 100 p. 969 - 977

ZANETTI, MARIA N; BELLO, OSCAR D; WANG, JING; COLEMAN, JEFF; CAI, YIYING; SINDELAR, CHARLES V; ROTHMAN, JAMES E; KRISHNAKUMAR, SHYAM S

Ring-like oligomers of Synaptotagmins and related C2 domain proteins

eLife; Lugar: Delaware; Año: 2016 vol. 5

BELLO, OSCAR DANIEL; CAPPA, ANDREA ISABEL; DE PAOLA, MATILDE; ZANETTI, MARÍA NATALIA; FUKUDA, MITSUNORI; FISSORE, RAFAEL A.; MAYORGA, LUIS S.; MICHAUT, MARCELA A.

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

EXPERIMENTAL CELL RESEARCH; Lugar: Amsterdam ; Año: 2016 vol. 347 p. 42 - 51

SOSA, CLAUDIA M.; ZANETTI, M. NATALIA (PRIMER AUTORIA COMPARTIDA); POCOGNONI, CRISTIAN A.; MAYORGA, LUIS S.

Acrosomal Swelling is Triggered by cAMP Downstream of the Opening of Store-Operated Calcium Channels During Acrosomal Exocytosis in Human Sperm1

BIOLOGY OF REPRODUCTION; Año: 2016 vol. 94

SOSA, C.M.; PAVAROTTI, M.A.; ZANETTI, M.N. (TERCER AUTOR); ZOPPINO, F.C.M.; DE BLAS, G.A.; MAYORGA, L.S.

Kinetics of human sperm acrosomal exocytosis

MOLECULAR HUMAN REPRODUCTION.; Lugar: Oxford; Año: 2015 vol. 21 p. 244 - 254

RODRÍGUEZ, FACUNDO; ZANETTI, M. NATALIA; MAYORGA, LUIS S.; TOMES, CLAUDIA N.

Munc18-1 Controls SNARE Protein Complex Assembly during Human Sperm Acrosomal Exocytosis

JOURNAL OF BIOLOGICAL CHEMISTRY; Año: 2012 vol. 287 p. 43825 - 43839

BELLO, OSCAR D.; ZANETTI, M. NATALIA; MAYORGA, LUIS S.; MICHAUT, MARCELA A.

RIM, Munc13, and Rab3A interplay in acrosomal exocytosis

EXPERIMENTAL CELL RESEARCH; Lugar: Amsterdam ; Año: 2012 vol. 318 p. 478 - 488

RODRIGUEZ FACUNDO; BUSTOS MATIAS A.; ZANETTI MARIA N (TERCER AUTOR); RUETE MARIA C. ; MAYORGA LUIS S.; TOMES CLAUDIA N.

a-SNAP Prevents Docking of the Acrosome during Sperm Exocytosis because It Sequesters Monomeric Syntaxin

PLOS ONE; Año: 2011 vol. 6 p. 21925 - 21941

ZANETTI N (PRIMER AUTOR) ; MAYORGA LS.

Acrosomal swelling and membrane docking are required for hybrid vesicle formation during the human sperm acrosome reaction.

BIOLOGY OF REPRODUCTION; Lugar: Madison, Wisconsin; Año: 2009 vol. 81 p. 396 - 405