Article
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2024
Avenali Micol, Cerri Silvia, Palmieri Ilaria, Ongari Gerardo, Stiuso Rita, Buongarzone Gabriele, Tassorelli Cristina, Biagini Tommaso, Valente Marialuisa, Cereda Cristina, Mazza Tommaso, Gana Simone, Pacchetti Claudio, Valente Enza Maria
Abstract excerpt
BACKGROUND: SNCA p.V15A was reported in five families. In vitro models showed increased aggregation and seeding activity, mitochondrial damage, and apoptosis. Mutant flies had reduced flying ability and survival. OBJECTIVES: To clinically and functionally evaluate SNCA p.V15A in a large Italian family with Parkinson's disease (PD). METHODS: Genetic diagnosis was reached through next-generation sequencing....
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