Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders

Bibliographic Details
Main Author: Bessa, C.
Publication Date: 2013
Other Authors: Maciel, P., Rodrigues, Ana João
Format: Article
Language: eng
Source: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Download full: http://hdl.handle.net/1822/24223
Summary: Prova tipográfica (uncorrected proof)
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spelling Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disordersNeurodevelopmentC. elegansAutismEpilepsyIntellectual disabilityScience & TechnologyProva tipográfica (uncorrected proof)Neurodevelopmental disorders such as epilepsy, intellectual disability (ID), and autism spectrum disorders (ASDs) occur in over 2 % of the population, as the result of genetic mutations, environmental factors, or combination of both. In the last years, use of large-scale genomic techniques allowed important advances in the identification of genes/loci associated with these disorders. Nevertheless, following association of novel genes with a given disease, interpretation of findings is often difficult due to lack of information on gene function and effect of a given mutation in the corresponding protein. This brings the need to validate genetic associations from a functional perspective in model systems in a relatively fast but effective manner. In this context, the small nematode, Caenorhabditis elegans, presents a good compromise between the simplicity of cell models and the complexity of rodent nervous systems. In this article, we review the features that make C. elegans a good model for the study of neurodevelopmental diseases. We discuss its nervous system architecture and function as well as the molecular basis of behaviors that seem important in the context of different neurodevelopmental disorders. We review methodologies used to assess memory, learning, and social behavior as well as susceptibility to seizures in this organism. We will also discuss technological progresses applied in C. elegans neurobiology research, such as use of microfluidics and optogenetic tools. Finally, we will present some interesting examples of the functional analysis of genes associated with human neurodevelopmental disorders and how we can move from genes to therapies using this simple model organism.The authors would like to acknowledge Fundação para a Ciência e Tecnologia (FCT) (PTDC/SAU-GMG/112577/2009). AJR and CB are recipients of FCT fellowships: SFRH/BPD/33611/2009 and SFRH/BPD/74452/2010, respectively.SpringerUniversidade do MinhoBessa, C.Maciel, P.Rodrigues, Ana João2013-032013-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/24223eng0893-764810.1007/s12035-013-8434-623494747info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:26:55Zoai:repositorium.sdum.uminho.pt:1822/24223Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:21:25.389457Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
title Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
spellingShingle Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
Bessa, C.
Neurodevelopment
C. elegans
Autism
Epilepsy
Intellectual disability
Science & Technology
title_short Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
title_full Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
title_fullStr Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
title_full_unstemmed Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
title_sort Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders
author Bessa, C.
author_facet Bessa, C.
Maciel, P.
Rodrigues, Ana João
author_role author
author2 Maciel, P.
Rodrigues, Ana João
author2_role author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv Bessa, C.
Maciel, P.
Rodrigues, Ana João
dc.subject.por.fl_str_mv Neurodevelopment
C. elegans
Autism
Epilepsy
Intellectual disability
Science & Technology
topic Neurodevelopment
C. elegans
Autism
Epilepsy
Intellectual disability
Science & Technology
description Prova tipográfica (uncorrected proof)
publishDate 2013
dc.date.none.fl_str_mv 2013-03
2013-03-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/1822/24223
url http://hdl.handle.net/1822/24223
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0893-7648
10.1007/s12035-013-8434-6
23494747
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 Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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