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…Genetics of Parkinson’s Disease in Polish patients with positive family history-preeliminary study.
Objective: The aim of our study was to find genetic variants associated with the familial forms of Parkinson’s disease (PD) in Polish population. Background: PD…Impaired CaMKII/ERK activation in mouse mutant LRRK2 R1441G fibroblasts was associated with reduced mitochondrial calcium store and efflux in response to depolarization stress
Objective: To determine the molecular link of LRRK2R1441G mutation to impaired CaMKII/ERK signaling under mitochondrial depolarization stress using mutant mouse embryonic fibroblast (MEF) model of…Exploring mitochondrial mechanisms defining Parkinson’s disease penetrance in LRRK2 G2019S neuronal cultures
Objective: We explored mitochondria as integrators of genetics and environment in LRRK2 G2019S neuronal models. Specifically, we aimed to unravel mitochondrial mechanisms that define the…Genetic subtypes of Parkinson’s disease in a Colorado clinic
Objective: The objective of this study is to investigate the natural history of genetic subtypes of Parkinson’s disease (PD) and characterize the genetic architecture of…Clinical characterization of Parkinson’s disease patients with LRRK2 mutation: Insights from a Portuguese reference center
Objective: This study aims to provide a clinical characterization of Parkinson's disease (PD) patients with LRRK2 mutations, who are being treated at a Portuguese reference…Asian LRRK2 variants do not increase Likelihood Ratios derived from MDS prodromal Parkinson’s Disease criteria in a community population
Objective: To determine if the presence of the Asian LRRK2 risk variants (G238R, S1647T, R1628P) confers an increased risk in developing PD in a Singaporean…Inhibition of LRRK2 kinase activity promotes glucocerebrosidase transport to the lysosomes in primary monocyte-derived macrophages from patients with GBA-associated Parkinson’s disease
Objective: The aim was to evaluate the effectiveness of leucine-rich repeat kinase 2 (LRRK2) kinase activity inhibition in restoring transport of the enzyme glucocerebrosidase (GCase),…
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