帕金森病
突变
基因
遗传学
生物
细胞外
膜联蛋白A1
医学
膜联蛋白
内科学
疾病
细胞
作者
Monica Gagliardi,Radha Procopio,Mariagrazia Talarico,Andrea Quattrone,Gennarina Arabia,Maurizio Morelli,Marco D’Amelio,Donatella Malanga,Giuseppe Bonapace,Aldo Quattrone,Grazia Annesi
标识
DOI:10.1016/j.neurobiolaging.2023.01.014
摘要
Recently, a novel pathogenic variant in Annexin A1 protein (c.4G > A, p.Ala2Thr) has been identified in an Iranian consanguineous family with autosomal recessive parkinsonism. The deficiencies of ANXA1 could lead to extracellular SNCA accumulation, defects in intracellular signaling pathways and synaptic plasticity causing parkinsonism. The aim of this study was to identify rare ANXA1 variants in 95 early-onset PD patients from South Italy. Sequencing analysis of ANXA1 gene revealed only 2 synonymous variants in PD patients (rs1050305, rs149033255). Therefore, we conclude that the recently published ANXA1 mutation is not a common cause of EOPD in Southern Italy.
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