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Activity induced genes expression is impaired in polyglutamine spinocerebellar ataxias

2025Documento de conferência Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
datacite.subject.sdg09:Indústria, Inovação e Infraestruturas
datacite.subject.sdg04:Educação de Qualidade
dc.contributor.authorTorquato Afonso, Inês
dc.contributor.authorVilhena Catarino Brito, David
dc.contributor.authorBading, Hilmar
dc.contributor.authorNóbrega, Clévio
dc.date.accessioned2026-01-21T13:05:20Z
dc.date.available2026-01-21T13:05:20Z
dc.date.issued2025
dc.description.abstractPolyglutamine Spinocerebellar ataxias (SCAs) are a group of 6 incurable genetic disorders, caused by an expansion of the trinucleotide cytosine-adenine-guanine in their causative genes, which produces a protein with an expanded glutamine region. This project focuses on the study of Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) (1), which are rare dominantly inherited disorders that primarily impair the cerebellum therefore leading to motor ataxia. Activity-induced inhibitor of death (AID), are a group of pro-survival 9 genes which were found to be neuroprotector in several neurological disorders, including stroke, glaucoma, AD, HD, and ALS (2). In this project, we aim to investigate about the relevance of the expression of AID genes for cerebellum function and whether their expression levels are impaired in SCA2 and SCA3eng
dc.identifier.eissn1536-5964
dc.identifier.urihttp://hdl.handle.net/10400.1/28163
dc.language.isoeng
dc.peerreviewedyes
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleActivity induced genes expression is impaired in polyglutamine spinocerebellar ataxiaseng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025
oaire.citation.endPage12
oaire.citation.issue4
oaire.citation.startPage11
oaire.citation.titleMedicine / Proceedings of the 27th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana) Lisbon, 23 -25 November 2023
oaire.citation.volume104
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameTorquato Afonso
person.familyNameVilhena Catarino Brito
person.familyNameNóbrega
person.givenNameInês
person.givenNameDavid
person.givenNameClévio
person.identifier.ciencia-id7918-F771-8F47
person.identifier.ciencia-idC510-7F41-BAF8
person.identifier.orcid0000-0003-1346-6777
person.identifier.orcid0000-0002-2726-9347
person.identifier.orcid0000-0002-8312-5292
person.identifier.ridM-6047-2013
person.identifier.scopus-author-id24473454000
relation.isAuthorOfPublication607d44a5-9918-4126-9974-d2d613395264
relation.isAuthorOfPublication24607876-f29a-41fa-be64-425f26ac67b5
relation.isAuthorOfPublication725ea6f8-1363-4cee-9cf2-5ac7303b3ba9
relation.isAuthorOfPublication.latestForDiscovery607d44a5-9918-4126-9974-d2d613395264

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