Identification and characterisation of localisation signals in ataxin-3, the affected protein in spinocerebellar ataxia type 3

Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG stretch in the MJD1 gene encoding a polyglutamine repeat in the respective ataxin-3 protein. SCA3 therefore belongs to the group of the so called polyglutamine diseases. Ataxin-3 is mainly localized in the cytoplasm. However, one hallmark of SCA3 is the formation of ataxin-3 containing aggregates in the nucleus of neurons. In addition, we recently demonstrated in vivo using transgenic mouse models that nuclear localization of ataxin-3 i…