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Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorder

2018-11-15Documento de conferência Acesso restrito
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dc.contributor.authorMarques, Ana
dc.contributor.authorMartiniano, Hugo
dc.contributor.authorSantos, J.X.
dc.contributor.authorVilela, J.
dc.contributor.authorAsif, M.
dc.contributor.authorOliveira, G.
dc.contributor.authorRomão, Luísa
dc.contributor.authorVicente, Astrid
dc.date.accessioned2019-02-27T11:56:36Z
dc.date.embargo2025-01-31
dc.date.issued2018-11-15
dc.description.abstractIntroduction: Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with an unclear etiology. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for other regulatory mechanisms is likely. The nonsense-mediated decay (NMD) pathway controls mRNA quality and plays an important role in the regulation of the transcriptome. Mutations in genes involved in the NMD pathway have been linked to neurodevelopmental disorders, with intriguing evidence for an involvement of mutations in the UPF3B gene, a core component of the NMD pathway, in ASD.pt_PT
dc.description.sponsorshipSupport for this work was provided by Fundação para a Ciência e a Tecnologia (grant PD/BD/113773/2015 to Ana Rita Marques).pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5966
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectAutism Spectrum Disorderpt_PT
dc.subjectGenómica Funcional e Estruturalpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mental
dc.titleEvidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorderpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpt_PT
oaire.citation.title22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 15- 17 novembro 2018pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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