Article
LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.
Gene - 5 Oct 2023
Usenko T S, Senkevich K A, Basharova K S, Bezrukova A I, Baydakova G V, Tyurin A A, Beletskaya M V, Kulabukhova D G, Grunina M N, Emelyanov A K, Miliukhina I V, Timofeeva A A, Zakharova E Y, Pchelina S N
Abstract excerpt
Last data demonstrated that exonic variants of LRRK2 (p.G2019S, p.M1646T) may affect the catalytic activity of lysosomal enzyme glucocerebrosidase (GCase) probably through the phosphorylation of Rab10 protein. We aimed to evaluate an association of LRRK2 exonic variants previously associated with alteration of phosphorylation levels for Rab10Thr73 with PD risk in Russian population and analyze an impact of...
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