Article
ANXA1 mutation analysis in Italian patients with early onset PD.
Neurobiology of aging - 1 May 2023
Gagliardi Monica, Procopio Radha, Talarico Mariagrazia, Quattrone Andrea, Arabia Gennarina, Morelli Maurizio, D'Amelio Marco, Malanga Donatella, Bonapace Giuseppe, Quattrone Aldo, Annesi Grazia
Abstract excerpt
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...
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