Investigating LRRK2 and GBA genetic variability in underrepresented populations
Objective: To address the pressing need through promoting collaborative translational work evaluating genetic signatures in Latinx and African-American (AA) participants with and without Parkinson’s disease…Reduced serum PRDX3 levels are a biomarker for Asian LRRK2 carriers in Parkinson’s disease
Objective: We measured serum peroxiredoxin-3 (PRDX3) levels in Parkinson’s disease (PD) patients with and without LRRK2 risk variants, hypothesizing that PD LRRK2 carriers will show…Mutations in GBA and LRRK2 are not associated with increased inflammatory markers
Objective: To assess central and peripheral cytokines among Parkinson's disease (PD) patients with mutations in the LRRK2 and GBA genes as well as among non-manifesting…LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study
Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in 1,000 participants internationally: 300 with LRRK2 (Leucine-rich repeat…Correlating LRRK2 activation status in peripheral blood to urine BMPs in monogenic and idiopathic Parkinson’s disease
Objective: The greatest unmet need in Parkinson’s disease (PD) are disease-modifying treatments. The discovery of monogenic forms of PD has provided invaluable insights into pathomechanisms…Poly-ADP-ribose polymerase 1 modulates mitochondrial fission via LRRK2 in a rotenone-induced Parkinson’s disease model
Objective: To clarity the effects and mechanism of poly-ADP-ribose polymerase 1(PARP1) in regulating mitochondrial fusion/fission in a rotenone-induced Parkinson's disease (PD) model. Background: Accumulating evidences…First clinical and genetic analysis of LRRK2 G2019S, R1441G/C/H/, I2020T and Y1699C mutations in Costa Rican patients with Parkinson’s disease
Objective: To assess the frequency of G2019S, R1441G/C/H, I2020T and Y1699C mutations in a Costa Rican cohort of Parkinson’s disease (PD) cases and controls. Background:…Virtual Assessment of LRRK2 Carriers to Optimize Research in Parkinson Disease (VALOR-PD): A Comparison to Traditional Cohorts
Objective: To compare a national virtual cohort of LRRK2 G2019S carriers, identified via a personal genetics company, to existing traditional cohorts. Background: Advancements in personal…Rare variants of the LRRK2 gene in the haplotype as one of the potential risk factors for endemic parkinsonism in a small isolated region in the Czech Republic
Objective: The aim of the study was to investigate a co-occurence of rare variants in set of genes frequently associated with parkinsonism. Background: The increased…Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients
Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…
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