Article
Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3.
Physiological genomics - 13 Feb 2004
Griffin J L, Cemal C K, Pook M A
Abstract excerpt
Many of the spinocerebellar ataxias (SCAs) are caused by expansions of CAG trinucleotide repeats encoding abnormal stretches of polyglutamine. SCA3 or Machado-Joseph disease (MJD) is the commonest dominant inherited ataxia disease, with pathological phenotypes apparent with a CAG triplet repeat length of 61-84. In this study a mouse model of SCA3 has been examined which was produced using a human yeast artificial...
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