Article
Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases.
Human molecular genetics - 1 Feb 2008
Branco Joana, Al-Ramahi Ismael, Ukani Lubna, Pérez Alma M, Fernandez-Funez Pedro, Rincón-Limas Diego, Botas Juan
Abstract excerpt
Spinocerebellar Ataxia type 1 (SCA1) and Huntington's disease (HD) are two polyglutamine disorders caused by expansion of a CAG repeat within the coding regions of the Ataxin-1 and Huntingtin proteins, respectively. While protein folding and turnover have been implicated in polyglutamine disorders in general, many clinical and pathological differences suggest that there are also disease-specific mechanisms....
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