LRRK2-Associated Parkinsonism With and Without In Vivo Evidence of Pathologic Alpha-Synuclein: Clinical and Biomarker Characterization
Objective: To compare clinical and biomarker features and rate of progression among LRRK2-associated parkinsonism cases with and without in vivo evidence of pathologic alpha-synuclein (asyn)…LRRK2 I1371V Mutation: Unraveling Pathogenic Mechanisms in Dopaminergic Neurons via Membrane Fluidity & Calcium Dysregulation using PD Patient iPSCs
Objective: To estimate pathogenicity of LRRK2 I1371V mutation in PD patient iPSC-derived DA-neurons & assess underlying disease mechanisms involving membrane fluidity, Ca2+ dysregulation, & Rab8A/Rab10…Clinical and Brain Morphological Characteristics of Early LRRK2-associated Parkinson Disease
Objective: To investigate the impact of LRRK2 mutation in Parkinson disease (PD) and to explore the preclinical markers of LRRK2 mutation carriers who will develop…LRRK2 in Parkinson’s Disease: A per-domain rare-variant burden study
Objective: To study rare variant burden in different LRRK2 domains to investigate domain-based associations with Parkinson’s Disease (PD) and to identify functional variants in LRRK2.…LRRK2 G2019S promotes astrocytic inflammatory response induced by oligomeric α-synuclein through NF-κB pathway
Objective: Analyzing the mechanism of inflammatory response induced by oligomeric α-synuclein (O-αS) in LRRK2 G2019S mutation astrocytes to provide new targets and ideas for the…Development of potent, orally bioavailable, and highly selective LRRK2 PROTAC® degrader molecules as potential disease modifying therapeutics for Parkinson’s disease
Objective: Report on the pharmacological characteristics of small molecule PROteolysis TArgeting Chimera (PROTAC) molecules designed to induce degradation of leucine rich repeat kinase 2 (LRRK2)…monogenic parkinson´s disease in a chilean cohort
Objective: To describe the minimum prevalence and distribution of monogenic forms of PD in a chilean cohort Background: About 3–5% of Parkinson’s disease (PD) patients…Caveats regarding a family with PD and LRRK2 mutations
Objective: To describe and discuss genetic considerations regarding a kindred with PD cases with similar clinical characteristics, some with identified mutations in the LRRK2 gene…Caffeine Intake Interacts with Gene Variants in Parkinson’s disease
Objective: We investigate interactions of caffeine intake with PD risk variants and determine PD risk estimates in caffeine-drinkers carrying these variants. Background: Caffeine intake reduces…Assessment of variation in α-synuclein seed amplification assay results in the PPMI cohort: Association with hyposmia
Objective: To understand molecular heterogeneity among Parkinson’s disease (PD) patients, and controls based on α-synuclein seed amplification assay (SAA) results. Background: α-synuclein seed amplification assay…
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