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Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias

2025-11-10Journal article Open access
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dc.contributor.authorNóbrega, Clévio
dc.contributor.authorMarcelo, Adriana
dc.contributor.authorVieira da Conceição, André Filipe
dc.contributor.authorEncarnação Estevam, Bernardo Alexandre
dc.contributor.authorRajado, Ana Teresa
dc.contributor.authorAlbuquerque Andrade de Matos, Carlos Adriano
dc.contributor.authorVilhena Catarino Brito, David
dc.contributor.authorTorquato Afonso, Inês
dc.contributor.authorAntunes Codêsso, José Miguel
dc.contributor.authorKoppenol, Rebekah
dc.contributor.authorCosta, Rafael Gomes da
dc.contributor.authorAfonso Reis, Ricardo António
dc.contributor.authorPaulino, Rodrigo
dc.contributor.authorGomes, Tiago
dc.date.accessioned2025-12-09T13:36:08Z
dc.date.available2025-12-09T13:36:08Z
dc.date.issued2025-11-10
dc.description.abstractPolyglutamine spinocerebellar ataxias (PolyQ SCAs) comprise a group of six inherited rare neurodegenerative diseases. They are caused by abnormal mutation of a CAG tract in six otherwise unrelated genes, leading to a complex cascade of molecular events that culminate in neuronal death. Based on decades of research in these diseases, this review identifies and categorizes the distinctive hallmarks involved in the molecular pathogenesis of PolyQ SCAs. We organized these molecular signatures into three groups: (i) primary hallmarks, which directly refer to the transcription and translation of the abnormally expanded gene and protein, respectively; (ii) secondary hallmarks, which include alterations in pathways and organelles that are implicated in the disease pathogenesis; and iii) end-stage hallmarks, which highlight the final events of the pathogenesis cascade in PolyQ SCAs. This framework is expected to provide a platform for understanding the complex network of molecular mechanisms involved in these diseases and to guide current and future efforts in developing therapies.eng
dc.identifier.doi10.1038/s41419-025-08154-2
dc.identifier.issn2041-4889
dc.identifier.urihttp://hdl.handle.net/10400.1/27933
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Nature
dc.relation.ispartofCell Death & Disease
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleMolecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxiaseng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage826
oaire.citation.titleCell Death & Disease
oaire.citation.volume16
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
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person.familyNameMarcelo
person.familyNameVieira da Conceição
person.familyNameEncarnação Estevam
person.familyNameRajado
person.familyNameAlbuquerque Andrade de Matos
person.familyNameVilhena Catarino Brito
person.familyNameTorquato Afonso
person.familyNameAntunes Codêsso
person.familyNameKoppenol
person.familyNameCosta
person.familyNameAfonso Reis
person.familyNamePaulino
person.familyNameGomes
person.givenNameClévio
person.givenNameAdriana
person.givenNameAndré Filipe
person.givenNameBernardo Alexandre
person.givenNameAna Teresa
person.givenNameCarlos Adriano
person.givenNameDavid
person.givenNameInês
person.givenNameJosé Miguel
person.givenNameRebekah
person.givenNameRafael Gomes da
person.givenNameRicardo António
person.givenNameRodrigo
person.givenNameTiago
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