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.…Slc2a13, a risk gene for Parkinson’s disease associated with Snca and Lrrk2
Objective: To exploit the potential function of the risk gene Slc2a13 in PD progression. Background: 越来越多的证据证实了总体遗传位点和候选基因对帕金森病的贡献，以及两个最确定的风险基因，即α-突触核蛋白（Snca）和富含亮氨酸的重复激酶2（Lrrk2）。Slc2a13 编码哺乳动物肌醇转运蛋白，被认为是一种群体依赖性风险基因。越来越多的证据支持这样一种观点，即 Slc2a13 活性的改变强调了 PD 的发展。剖析转运蛋白活性降低如何导致多巴胺能神经元变性和丧失，可能会进一步加深我们对功能的理解。 Method: A total of 338 cases…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…
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