3 documents found, page 1 of 1
Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias
Nóbrega, Clévio; Marcelo, Adriana; Vieira da Conceição, André Filipe; Encarnação Estevam, Bernardo Alexandre; Rajado, Ana TeresaPolyglutamine 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 th...
Autophagy in Spinocerebellar Ataxia Type 3: From pathogenesis to therapeutics
Paulino, Rodrigo; Nóbrega, ClévioMachado–Joseph disease (MJD) or spinocerebellar ataxia 3 (SCA3) is a rare, inherited, monogenic, neurodegenerative disease, and the most common SCA worldwide. MJD/SCA3 causative mutation is an abnormal expansion of the triplet CAG at exon 10 within the ATXN3 gene. The gene encodes for ataxin-3, which is a deubiquitinating protein that is also involved in transcriptional regulation. In normal conditions, the ata...
From the molecular hallmarks to motor behavior: characterization of a new trans...
Afonso, Inês T.; Koppenol, Rebekah; Conceição, André; Paulino, Rodrigo; Mirapalheta, Lourenzo; Matos, Carlos A; Nóbrega, ClévioSpinocerebellar ataxia type 2 (SCA2) is a rare disease with no cure, and therefore patients depend on symptomatic and supportive treatments. It is a highly debilitating disease affecting predominantly the brain with symptoms that include motor and coordination impairment. SCA2 is caused by an abnormal expansion of the CAG triplet in the coding region of the ATXN2 gene. When it has above 33 CAG repeats, it origi...