Insights into the role of G3BP1 on Polyglutamine diseases

Teixeira, Diogo Tiago Portela

http://hdl.handle.net/10400.1/13727

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Authors

Teixeira, Diogo Tiago Portela

Advisor(s)

Nóbrega, Clévio

Matos, Carlos

Abstract(s)

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.(...)

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.(...)