Title : Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence.

Pub. Date : 2007 Jul 11

PMID : 17626202






4 Functional Relationships(s)
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1 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG repeat in the MJD1 gene resulting in an expanded polyglutamine repeat in the ataxin-3 protein. polyglutamine ataxin 3 Mus musculus
2 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG repeat in the MJD1 gene resulting in an expanded polyglutamine repeat in the ataxin-3 protein. polyglutamine ataxin 3 Mus musculus
3 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited neurodegenerative disorder caused by the expansion of a CAG repeat in the MJD1 gene resulting in an expanded polyglutamine repeat in the ataxin-3 protein. polyglutamine ataxin 3 Mus musculus
4 However, mice transgenic for ataxin-3 with expanded polyglutamine repeats were severely affected by a strong neurological phenotype with tremor, behavioral deficits, strongly reduced motor and exploratory activity, a hunchback, and premature death at 3 to 6 months of age. polyglutamine ataxin 3 Mus musculus