Glucocerebrosidase is shaking up the synucleinopathies

摘要: The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up substrate occurs cells reticulo-endothelial system patients with Gaucher disease, a rare storage disorder caused recessively inherited deficiency glucocerebrosidase. disease has broad clinical phenotypic spectrum, divided non-neuronopathic neuronopathic forms. Like many monogenic diseases, correlation between manifestations molecular genotype not straightforward. There now well-established association mutations gene development more prevalent multifactorial disorders including Parkinson's other synucleinopathies. In this review we discuss recent studies advancing our understanding cellular relationship α-synuclein, potential impact established emerging therapeutics for treatment synucleinopathies, role pathways pathogenesis these neurodegenerative disorders.