Article
Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing.
Neurobiology of disease - 1 Jan 2022
Raposo Mafalda, Bettencourt Conceição, Melo Ana Rosa Vieira, Ferreira Ana F, Alonso Isabel, Silva Paulo, Vasconcelos João, Kay Teresa, Saraiva-Pereira Maria Luiza, Costa Marta D, Vilasboas-Campos Daniela, Bettencourt Bruno Filipe, Bruges-Armas Jácome, Houlden Henry, Heutink Peter, Jardim Laura Bannach, Sequeiros Jorge, Maciel Patrícia, Lima Manuela
Abstract excerpt
Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the involvement of other factors, namely genetic modifiers, whose identification remains limited. Our aim was to find novel genetic modifiers, analyse their epistatic effects and identify...
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