Article
The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models.
Disease models & mechanisms - 1 Jun 2022
Polinski Nicole K, Martinez Terina N, Ramboz Sylvie, Sasner Michael, Herberth Mark, Switzer Robert, Ahmad Syed O, Pelligrino Lee J, Clark Sean W, Marcus Jacob N, Smith Sean M, Dave Kuldip D, Frasier Mark A
Abstract excerpt
Heterozygous mutations in the GBA1 gene - encoding lysosomal glucocerebrosidase (GCase) - are the most common genetic risk factors for Parkinson's disease (PD). Experimental evidence suggests a correlation between decreased GCase activity and accumulation of alpha-synuclein (aSyn). To enable a better understanding of the relationship between aSyn and GCase activity, we developed and characterized two mouse models...
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