MDSGene Update and Expansion: Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson´s Disease
Objective: To provide a comprehensive and systematic overview of published data on carriers of pathogenic variants in the LRRK2 gene, including demographic, clinical, and genetic…Association of polygenic risk score of the LRRK2 gene for Parkinson’s disease with lysosomal hydrolase activities in the Russian Population based on genetic profile and established risk factors
Objective: To studied a previously proposed polygenic risk scores (PRSs) for PD selected for the LRRK2 gene in a genetic data set of Russian population…Characterisation and longitudinal significance of subjective cognitive decline in GBA and LRRK2 Parkinson’s disease
Objective: To investigate the clinical characteristics and predictive value associated with subjective cognitive decline (SCD) in people with Parkinson’s disease (PD) carrying pathogenic GBA or…LRRK2 and GBA Founder Mutations and their Interactions in Parkinson’s Disease
Objective: To evaluate the symptoms of Parkinson’s disease (PD) and time to diagnosis in single and dual carriers of LRRK2 G2019S and GBA N370S. Background:…LRRK2 G2019S as a trigger of inflammatory signaling in patient-derived microglia
Objective: This study explores the inflammatory processes in leucine-rich repeat kinase 2 (LRRK2)- microglia carrying the G2019S mutation and determines their contribution to Parkinson’s disease…Differential Rab10 & Rab8A phosphorylation by LRRK2 variants G2019S & I1371V manifests differences in membrane fluidity & pathogenicity.
Objective: To evaluate the difference in substrate (Rab8A & Rab10) phosphorylation by LRRK2 variants G2019S & I1371V on membrane fluidity & pathogenicity. Background: LRRK2 is…LRRK2 Inhibition by BIIB122/DNL151 Demonstrates Robust Target and Lysosomal Engagement: Pharmacokinetics, Pharmacodynamics and Safety in Phase 1 and Phase 1b Studies in Healthy and Parkinson’s Participants
Objective: To characterize the pharmacokinetics (PK), pharmacodynamics, safety, and exposure-response (E-R) relationships of BIIB122/DNL151 to inform on clinical dose selection. Background: Increased LRRK2 kinase activity…Analysis of α-Synuclein Seed Amplification Assay in Carriers of GBA and LRRK2 Pathogenic Variants
Objective: To assess α-synuclein seed amplification assay (αS-SAA) in cerebrospinal fluid (CSF) from a cohort of PD patients and non-manifesting carriers (NMCs) of pathogenic GBA…Radiological markers of CSF α-synuclein aggregation in Parkinson’s disease patients
Objective: To investigate the association between cerebrospinal (CSF) αS aggregates, MRI, and dopamine transporter spectral tomography (DaTscanTM) imaging metrics. Background: Synuclein amplification assays (SAA) enables…Impairment of SHH signaling in PD LRRK2 I1371V iPSC derived floor plate cells contribute to ontogenic origin of lower dopaminergic-neuron yield
Objective: To estimate SHH responsiveness & signaling of Floor Plate Cells (FPCs) derived from LRRK2 I1371V PD patient-iPSCs along with its link with LRRK2 I1371V…
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