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

Autor: Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C, Deciphering Developmental Disorders Study, SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Alfons Macaya, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::18fd80c154bc024e984856eca1549a33
https://reader.elsevier.com/reader/sd/pii/S0002929719300618?token=2D60101246259E501F4CCA78BC429A4B90C6C156D7C0E0603075AF5B07B85A7F874FA3994369569FBC00B9C93D7B118D&originRegion=eu-west-1&originCreation=20210722083225

Due casi di neoplasia in pazienti con Sindrome di Kabuki

Autor: Tumino, M, Licciardello, M, Scalora, L, Cutrupi, Mc, Amoroso, L, Catania, R, Damico, S, DI CATALDO, Andrea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4731::642d9816bb6aa12bffa4b61fc4121dec
http://hdl.handle.net/20.500.11769/95921

Livelli sierici di IL6 in pazienti con malattia di Kawasaki prima e dopo trattamento con Ig ev: risultati preliminari

Autor: Calabrò, Ge, Talenti, A, Vicchio, P, Comito, D, Rossi, P, Famiani, A, Cutrupi, Mc, Ferraù, V, Salpietro, V, Mallamace, R, Moschella, E, Alterio, T, Marvaso, S, Munafò, C, Gallizzi, Romina, SALPIETRO DAMIANO, Carmelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::e3b05ffe2b7652d134ce7b1fb57f7eb3
http://hdl.handle.net/11570/1908758

Leri Weill syndrome: a case report

Autor: Briuglia, Silvana, Cutrupi, Mc, Gallizzi, R., Munafò, C., Cuppari, C., Cutrì, Mr, SALPIETRO DAMIANO, Carmelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::fd89628a20b10099dad112cea44f5f50
http://hdl.handle.net/11570/1873116

Talassemia major ed allergia: conferma dell' hygiene hypotesis

Autor: Cuppari, C., Piraino, B., Briuglia, Silvana, Gallizzi, R., Muscolino, G., Salpietro, A. D., Cutrupi, Mc, Rigoli, L., SALPIETRO DAMIANO, Carmelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::6c04240d64dee21b7d4f301edb868bf7
http://hdl.handle.net/11570/1873029