SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)

Bibliographic Details
Main Author: Oliveira, Bárbara
Publication Date: 2011
Other Authors: Correia, Catarina, Conceição, Inês, Almeida, Joana, Café, Cátia, Oliveira, Guiomar, M Vicente, Astrid
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.18/358
Summary: ASD are a heterogeneous group of neurodevelopmental disorders presenting a complex inheritance pattern. The genetic causes of ASD are diverse, but the majority of genes previously implicated participate in the development and function of neuronal circuits. Mutations in genes encoding synaptic cell adhesion molecules and scaffolding proteins, such as neuroligins (NLGN), neurexins (NRXN) and the SHANK family, have been recurrently reported in patients with ASD. SHANK2 encodes a scaffolding protein located in the postsynaptic density (PSD) of glutamatergic synapses, and mutations in ProSAP1/SHANK2 have been recently associated with both ASD and intellectual disability.
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spelling SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)Perturbações do Desenvolvimento Infantil e Saúde MentalASD are a heterogeneous group of neurodevelopmental disorders presenting a complex inheritance pattern. The genetic causes of ASD are diverse, but the majority of genes previously implicated participate in the development and function of neuronal circuits. Mutations in genes encoding synaptic cell adhesion molecules and scaffolding proteins, such as neuroligins (NLGN), neurexins (NRXN) and the SHANK family, have been recurrently reported in patients with ASD. SHANK2 encodes a scaffolding protein located in the postsynaptic density (PSD) of glutamatergic synapses, and mutations in ProSAP1/SHANK2 have been recently associated with both ASD and intellectual disability.Instituto Nacional de Saúde Doutor Ricardo Jorge, IPRepositório Científico do Instituto Nacional de SaúdeOliveira, BárbaraCorreia, CatarinaConceição, InêsAlmeida, JoanaCafé, CátiaOliveira, GuiomarM Vicente, Astrid2012-01-12T11:36:01Z2011-112011-11-01T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10400.18/358enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-26T14:16:26Zoai:repositorio.insa.pt:10400.18/358Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T21:30:30.065024Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
title SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
spellingShingle SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
Oliveira, Bárbara
Perturbações do Desenvolvimento Infantil e Saúde Mental
title_short SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
title_full SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
title_fullStr SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
title_full_unstemmed SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
title_sort SHANK2 mutations: synapse homeostasis in Autism Spectrum Disorders (ASD)
author Oliveira, Bárbara
author_facet Oliveira, Bárbara
Correia, Catarina
Conceição, Inês
Almeida, Joana
Café, Cátia
Oliveira, Guiomar
M Vicente, Astrid
author_role author
author2 Correia, Catarina
Conceição, Inês
Almeida, Joana
Café, Cátia
Oliveira, Guiomar
M Vicente, Astrid
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Oliveira, Bárbara
Correia, Catarina
Conceição, Inês
Almeida, Joana
Café, Cátia
Oliveira, Guiomar
M Vicente, Astrid
dc.subject.por.fl_str_mv Perturbações do Desenvolvimento Infantil e Saúde Mental
topic Perturbações do Desenvolvimento Infantil e Saúde Mental
description ASD are a heterogeneous group of neurodevelopmental disorders presenting a complex inheritance pattern. The genetic causes of ASD are diverse, but the majority of genes previously implicated participate in the development and function of neuronal circuits. Mutations in genes encoding synaptic cell adhesion molecules and scaffolding proteins, such as neuroligins (NLGN), neurexins (NRXN) and the SHANK family, have been recurrently reported in patients with ASD. SHANK2 encodes a scaffolding protein located in the postsynaptic density (PSD) of glutamatergic synapses, and mutations in ProSAP1/SHANK2 have been recently associated with both ASD and intellectual disability.
publishDate 2011
dc.date.none.fl_str_mv 2011-11
2011-11-01T00:00:00Z
2012-01-12T11:36:01Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/358
url http://hdl.handle.net/10400.18/358
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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