Frequency of LRRK2 p.L1795F variant in Parkinson’s Disease patients from Central Europe within the CEGEMOD consortium
Objective: The aim of this study was to investigate the presence of LRRK2 p.L1795F variant in PD patients from Central Europe. Background: Pathogenic variants in…The role of LRRK2 in regulating microglial activity in Parkinson’s disease
Objective: To investigate the effects of pathogenic LRRK2 mutations on lysosomal function and phagocytic activity of microglia. Background: The LRRK2 G2019S mutation is one of…Screening for newly PD-associated RAB32 p.S71R variant in Latin America
Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…Rationale for LRRK2 inhibition in sporadic Parkinson’s disease and the LUMA trial
Objective: To summarize the rationale for LRRK2 inhibition in sporadic PD patients without LRRK2 mutations, and to describe the current design of the LUMA study,…LRRK2 Gene Mutation in Parkinson’s Disease
Objective: We aim to describe the clinical characteristics of PD linked to an LRRK2 mutation. Background: One of the most common monogenic forms of Parkinson's…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.…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…
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