葡萄糖脑苷酶
外周血单个核细胞
先证者
病理生理学
阵发性运动障碍
突变
生物
帕金森病
体外
分子生物学
医学
内科学
遗传学
疾病
内分泌学
基因
运动障碍
作者
Micol Avenali,Silvia Cerri,Ilaria Palmieri,Gerardo Ongari,Rita Stiuso,Gabriele Buongarzone,Cristina Tassorelli,Tommaso Biagini,Marialuisa Valente,Cristina Cereda,Tommaso Mazza,Simone Gana,Claudio Pacchetti,Enza Maria Valente
摘要
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.
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