Article
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Neurobiology of aging - 1 Jul 2021
Sosero Yuri L, Yu Eric, Krohn Lynne, Rudakou Uladzislau, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Sardi S Pablo, Bandres-Ciga Sara, Alcalay Roy N, Gan-Or Ziv, Senkevich Konstantin
Abstract excerpt
The LRRK2 p.G2019S Parkinson's disease (PD) variant is associated with elevated glucocerebrosidase (GCase) activity in peripheral blood. We aimed to evaluate the association of other LRRK2 variants with PD and its association with GCase activity. LRRK2 and GBA were fully sequenced in 1123 PD patients and 576 controls from the Columbia and PPMI cohorts, in which GCase activity was measured in dried blood spots by...
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