Article
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease.
Human mutation - 1 Jun 2010
Voutsinas Gerassimos E, Stavrou Eleana F, Karousos Gerassimos, Dasoula Aggeliki, Papachatzopoulou Adamantia, Syrrou Maria, Verkerk Annemieke J M H, van der Spek Peter, Patrinos George P, Stöger Reinhard, Athanassiadou Aglaia
Abstract excerpt
Genetic alterations in the alpha-synuclein (SNCA) gene have been implicated in Parkinson Disease (PD), including point mutations, gene multiplications, and sequence variations within the promoter. Such alterations may be involved in pathology through structural changes or overexpression of the protein leading to protein aggregation, as well as through impaired gene expression. It is, therefore, of importance to...
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