Article
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2018
Pchelina Sofya, Baydakova Galina, Nikolaev Mikhael, Senkevich Konstantin, Emelyanov Anton, Kopytova Alena, Miliukhina Irina, Yakimovskii Andrey, Timofeeva Alla, Berkovich Olga, Fedotova Ekatrina, Illarioshkin Sergey, Zakharova Ekaterina
Abstract excerpt
INTRODUCTION: Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients with glucocerebrosidase 1 mutations (glucocerebrosidase 1-PD). However, it is unknown whether this decrease in enzymatic activity leads to lysosphingolipid accumulations. METHODS: The levels of hexosylsphingosines,...
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