Publication
Insights into the role of G3BP1 on Polyglutamine diseases
datacite.subject.fos | Ciências Médicas::Outras Ciências Médicas | pt_PT |
dc.contributor.advisor | Nóbrega, Clévio | |
dc.contributor.advisor | Matos, Carlos | |
dc.contributor.author | Teixeira, Diogo Tiago Portela | |
dc.date.accessioned | 2020-04-20T15:47:28Z | |
dc.date.available | 2022-12-12T01:30:13Z | |
dc.date.issued | 2019-12-12 | |
dc.description.abstract | Spinocerebellar Ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD) and Spinocerebellar Ataxia type 2 (SCA2), are the most and second most common forms of ataxia worldwide, respectively. They are polyglutamine diseases, which gene products codify a mutant protein with an abnormal CAG trinucleotide expansion. This will provoke the formation of toxic insoluble aggregates in the affected neurons. In a disease context stressful situation cells are prone to form stress granules (SGs) that are responsible for accumulate stalled untranslated mRNAs, proteins and several other macromolecules.(...) | pt_PT |
dc.description.abstract | As doenças de poliglutaminas são doenças raras e hereditárias caracterizadas por mutações que resultam numa expansão anormal do trinucleótido CAG, que codifica o aminoácido glutamina. Os produtos destes genes mutados vão originar proteínas mutantes que tendem a formar agregados intracelulares insolúveis.(...) | pt_PT |
dc.identifier.tid | 202470660 | pt_PT |
dc.identifier.uri | http://hdl.handle.net/10400.1/13727 | |
dc.language.iso | eng | pt_PT |
dc.subject | Aataxia espinocerebelosa tipo 2 | pt_PT |
dc.subject | Ataxina-2 | pt_PT |
dc.subject | Ataxia espinocerebelosa tipo 3 | pt_PT |
dc.subject | Ataxina-3 | pt_PT |
dc.subject | Proteínas de ligação ao RNA | pt_PT |
dc.subject | GX | pt_PT |
dc.title | Insights into the role of G3BP1 on Polyglutamine diseases | pt_PT |
dc.type | master thesis | |
dspace.entity.type | Publication | |
rcaap.rights | openAccess | pt_PT |
rcaap.type | masterThesis | pt_PT |
thesis.degree.grantor | Universidade do Algarve. Faculdade de Ciências e Tecnologia | |
thesis.degree.level | Mestre | |
thesis.degree.name | Mestrado em Biologia Molecular e Microbiana | pt_PT |