. Human alpha-synuclein-harboring familial Parkinson's disease-linked Ala-53 --> Thr mutation causes neurodegenerative disease with alpha-synuclein aggregation in transgenic mice. Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8968-73. PubMed.


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  1. This paper rigorously demonstrates that overexpression of one mutant form of alpha-synuclein results in synuclein aggregation, inclusions, and neurological disease while overexpression of wild-type human synuclein and another mutant does not. These mice should be very useful for further studying the pathophysiology of alpha-synucleinopathies.