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

Autores: 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
Año de publicación: 2019
Idioma: inglés
Tipo de recurso: artículo
Estado: versión publicada
Descripción: 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 essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.
Fil: Salpietro, Vincenzo. Università degli Studi di Genova; Italia. University College London; Estados Unidos
Fil: Malintan, Nancy T.. Università degli Studi di Genova; Italia
Fil: Llano Rivas, Isabel. Hospital Universitario Cruces; España
Fil: Spaeth, Christine G.. University of Cincinnati; Estados Unidos
Fil: Efthymiou, Stephanie. University College London; Estados Unidos
Fil: Striano, Pasquale. Istituto Giannina Gaslini; Italia. University of Genoa; Italia
Fil: Vandrovcova, Jana. University College London; Estados Unidos
Fil: Cutrupi, Maria Concetta. University of Messina; Italia
Fil: Chimenz, Roberto. University of Messina; Italia
Fil: David, Emanuele. Papardo University Hospital; Italia
Fil: Di Rosa, Gabriella. University of Messina; Italia
Fil: Marce Grau, Anna. University Hospital Vall d’Hebron; España
Fil: Raspall Chaure, Miquel. University Hospital Vall d’Hebron; España
Fil: Martin Hernandez, Elena. Hospital 12 de Octubre; España
Fil: Zara, Federico. Istituto Giannina Gaslini; Italia
Fil: Minetti, Carlo. Istituto Giannina Gaslini; Italia
Fil: Bello, Oscar Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina
Fil: De Zorzi, Rita. Università degli Studi di Trieste; Italia
Fil: Fortuna, Sara. Università degli Studi di Trieste; Italia
Fil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados Unidos
Fil: Alkhawaja, Mariam. No especifíca;
Fil: Sultan, Tipu. Institute of Child Health and The Children’s Hospital Lahore; Pakistán
Fil: Mankad, Kshitij. Great Ormond Street Hospital for Children; Reino Unido
Fil: Vitobello, Antonio. Center Hospitalier Universitaire Dijon Bourgogne; Francia
Fil: Thomas, Quentin. Center Hospitalier Universitaire Dijon Bourgogne; Francia
Fil: Tran Mau Them, Frederic. Center Hospitalier Universitaire Dijon Bourgogne; Francia
Fil: Faivre, Laurence. Hospital d’Enfants, Dijon; Francia. Center Hospitalier Universitaire Dijon Bourgogne; Francia
Fil: Martinez Azorin, Francisco. No especifíca;
Fil: Prada, Carlos E.. University of Cincinnati; Estados Unidos
Fil: Macaya, Alfons. University Hospital Vall d’Hebron; España
Materia: AUTISM
EPILEPSY
MOVEMENT DISORDERS
NEURODEVELOPMENTAL DISORDERS
NEURONAL EXOCYTOSIS
SNARE
SYNAPTOBREVIN
SYNAPTOPATHY
VAMP2
VESICLE FUSION
Nivel de accesibilidad: acceso abierto
Condiciones de uso: https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
Institución: Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador: oai:ri.conicet.gov.ar:11336/160046

Acceder

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oai_identifier_str	oai:ri.conicet.gov.ar:11336/160046
network_acronym_str	CONICETDig
repository_id_str	3498
network_name_str	CONICET Digital (CONICET)
spelling	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentSalpietro, VincenzoMalintan, Nancy T.Llano Rivas, IsabelSpaeth, Christine G.Efthymiou, StephanieStriano, PasqualeVandrovcova, JanaCutrupi, Maria ConcettaChimenz, RobertoDavid, EmanueleDi Rosa, GabriellaMarce Grau, AnnaRaspall Chaure, MiquelMartin Hernandez, ElenaZara, FedericoMinetti, CarloBello, Oscar DanielDe Zorzi, RitaFortuna, SaraDauber, AndrewAlkhawaja, MariamSultan, TipuMankad, KshitijVitobello, AntonioThomas, QuentinTran Mau Them, FredericFaivre, LaurenceMartinez Azorin, FranciscoPrada, Carlos E.Macaya, AlfonsAUTISMEPILEPSYMOVEMENT DISORDERSNEURODEVELOPMENTAL DISORDERSNEURONAL EXOCYTOSISSNARESYNAPTOBREVINSYNAPTOPATHYVAMP2VESICLE FUSIONhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3VAMP2 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 essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.Fil: Salpietro, Vincenzo. Università degli Studi di Genova; Italia. University College London; Estados UnidosFil: Malintan, Nancy T.. Università degli Studi di Genova; ItaliaFil: Llano Rivas, Isabel. Hospital Universitario Cruces; EspañaFil: Spaeth, Christine G.. University of Cincinnati; Estados UnidosFil: Efthymiou, Stephanie. University College London; Estados UnidosFil: Striano, Pasquale. Istituto Giannina Gaslini; Italia. University of Genoa; ItaliaFil: Vandrovcova, Jana. University College London; Estados UnidosFil: Cutrupi, Maria Concetta. University of Messina; ItaliaFil: Chimenz, Roberto. University of Messina; ItaliaFil: David, Emanuele. Papardo University Hospital; ItaliaFil: Di Rosa, Gabriella. University of Messina; ItaliaFil: Marce Grau, Anna. University Hospital Vall d’Hebron; EspañaFil: Raspall Chaure, Miquel. University Hospital Vall d’Hebron; EspañaFil: Martin Hernandez, Elena. Hospital 12 de Octubre; EspañaFil: Zara, Federico. Istituto Giannina Gaslini; ItaliaFil: Minetti, Carlo. Istituto Giannina Gaslini; ItaliaFil: Bello, Oscar Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: De Zorzi, Rita. Università degli Studi di Trieste; ItaliaFil: Fortuna, Sara. Università degli Studi di Trieste; ItaliaFil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados UnidosFil: Alkhawaja, Mariam. No especifíca;Fil: Sultan, Tipu. Institute of Child Health and The Children’s Hospital Lahore; PakistánFil: Mankad, Kshitij. Great Ormond Street Hospital for Children; Reino UnidoFil: Vitobello, Antonio. Center Hospitalier Universitaire Dijon Bourgogne; FranciaFil: Thomas, Quentin. Center Hospitalier Universitaire Dijon Bourgogne; FranciaFil: Tran Mau Them, Frederic. Center Hospitalier Universitaire Dijon Bourgogne; FranciaFil: Faivre, Laurence. Hospital d’Enfants, Dijon; Francia. Center Hospitalier Universitaire Dijon Bourgogne; FranciaFil: Martinez Azorin, Francisco. No especifíca;Fil: Prada, Carlos E.. University of Cincinnati; Estados UnidosFil: Macaya, Alfons. University Hospital Vall d’Hebron; EspañaCell Press2019-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/160046Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; et al.; Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment; Cell Press; American Journal Of Human Genetics; 104; 4; 3-2019; 721-7300002-9297CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0002929719300618info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.02.016info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:00:58Zoai:ri.conicet.gov.ar:11336/160046instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:00:58.305CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
title	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
spellingShingle	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment Salpietro, Vincenzo AUTISM EPILEPSY MOVEMENT DISORDERS NEURODEVELOPMENTAL DISORDERS NEURONAL EXOCYTOSIS SNARE SYNAPTOBREVIN SYNAPTOPATHY VAMP2 VESICLE FUSION
title_short	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
title_full	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
title_fullStr	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
title_full_unstemmed	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
title_sort	Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
dc.creator.none.fl_str_mv	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
author	Salpietro, Vincenzo
author_facet	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
author_role	author
author2	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
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	AUTISM EPILEPSY MOVEMENT DISORDERS NEURODEVELOPMENTAL DISORDERS NEURONAL EXOCYTOSIS SNARE SYNAPTOBREVIN SYNAPTOPATHY VAMP2 VESICLE FUSION
topic	AUTISM EPILEPSY MOVEMENT DISORDERS NEURODEVELOPMENTAL DISORDERS NEURONAL EXOCYTOSIS SNARE SYNAPTOBREVIN SYNAPTOPATHY VAMP2 VESICLE FUSION
purl_subject.fl_str_mv	https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv	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 essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function. Fil: Salpietro, Vincenzo. Università degli Studi di Genova; Italia. University College London; Estados Unidos Fil: Malintan, Nancy T.. Università degli Studi di Genova; Italia Fil: Llano Rivas, Isabel. Hospital Universitario Cruces; España Fil: Spaeth, Christine G.. University of Cincinnati; Estados Unidos Fil: Efthymiou, Stephanie. University College London; Estados Unidos Fil: Striano, Pasquale. Istituto Giannina Gaslini; Italia. University of Genoa; Italia Fil: Vandrovcova, Jana. University College London; Estados Unidos Fil: Cutrupi, Maria Concetta. University of Messina; Italia Fil: Chimenz, Roberto. University of Messina; Italia Fil: David, Emanuele. Papardo University Hospital; Italia Fil: Di Rosa, Gabriella. University of Messina; Italia Fil: Marce Grau, Anna. University Hospital Vall d’Hebron; España Fil: Raspall Chaure, Miquel. University Hospital Vall d’Hebron; España Fil: Martin Hernandez, Elena. Hospital 12 de Octubre; España Fil: Zara, Federico. Istituto Giannina Gaslini; Italia Fil: Minetti, Carlo. Istituto Giannina Gaslini; Italia Fil: Bello, Oscar Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina Fil: De Zorzi, Rita. Università degli Studi di Trieste; Italia Fil: Fortuna, Sara. Università degli Studi di Trieste; Italia Fil: Dauber, Andrew. Cincinnati Children's Hospital Medical Center; Estados Unidos Fil: Alkhawaja, Mariam. No especifíca; Fil: Sultan, Tipu. Institute of Child Health and The Children’s Hospital Lahore; Pakistán Fil: Mankad, Kshitij. Great Ormond Street Hospital for Children; Reino Unido Fil: Vitobello, Antonio. Center Hospitalier Universitaire Dijon Bourgogne; Francia Fil: Thomas, Quentin. Center Hospitalier Universitaire Dijon Bourgogne; Francia Fil: Tran Mau Them, Frederic. Center Hospitalier Universitaire Dijon Bourgogne; Francia Fil: Faivre, Laurence. Hospital d’Enfants, Dijon; Francia. Center Hospitalier Universitaire Dijon Bourgogne; Francia Fil: Martinez Azorin, Francisco. No especifíca; Fil: Prada, Carlos E.. University of Cincinnati; Estados Unidos Fil: Macaya, Alfons. University Hospital Vall d’Hebron; España
description	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 essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.
publishDate	2019
dc.date.none.fl_str_mv	2019-03
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/11336/160046 Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; et al.; Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment; Cell Press; American Journal Of Human Genetics; 104; 4; 3-2019; 721-730 0002-9297 CONICET Digital CONICET
url	http://hdl.handle.net/11336/160046
identifier_str_mv	Salpietro, Vincenzo; Malintan, Nancy T.; Llano Rivas, Isabel; Spaeth, Christine G.; Efthymiou, Stephanie; et al.; Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment; Cell Press; American Journal Of Human Genetics; 104; 4; 3-2019; 721-730 0002-9297 CONICET Digital CONICET
dc.language.none.fl_str_mv	eng
language	eng
dc.relation.none.fl_str_mv	info:eu-repo/semantics/altIdentifier/url/https://linkinghub.elsevier.com/retrieve/pii/S0002929719300618 info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.02.016
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv	openAccess
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv	application/pdf application/pdf application/pdf
dc.publisher.none.fl_str_mv	Cell Press
publisher.none.fl_str_mv	Cell Press
dc.source.none.fl_str_mv	reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str	CONICET Digital (CONICET)
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instname_str	Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv	CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv	dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score	13.13397

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

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