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:…RBD Unmasked: LRRK2 and the Prodromal Path to Parkinson’s Disease
Objective: The primary objective is to analyze and compare the prevalence of RBD in LRRK2-positive individuals across different stages, including healthy controls (HC), prodromal Parkinson's…Differences in Oculometric Measures between Patients with LRRK2-associated and Idiopathic Parkinson’s Disease
Objective: To examine the use of oculometric measures (OMs) as a tool to differentiate patients with Leucine-Rich Repeat Kinase (LRRK2) - associated (L2PD) and idiopathic…Non-interventional phase 0 study for the collection of biospecimens from patients with Parkinson’s Disease (PD) to support the development of a diagnostic classifier for LRRK2-driven PD
Objective: Measure LRRK2 pathway activity in Parkinson’s Disease patients stratified using a genetic predictive classifier model. Background: Extensive research has shown that overactivation of the…Understanding the earliest phases of Parkinson’s disease (PD) – an expanding opportunity to study ‘at-risk’/early/prodromal PD in the Global Parkinson’s Genetics Program (GP2)
Objective: To identify and recruit at-risk/early/prodromal Parkinson’s disease (PD) cohorts around the world to the Global Parkinson’s Genetics Program (GP2, http://gp2.org/) and build a global…LRRK2 inhibition by BIIB122/DNL151 in participants with Pathogenic LRRK2 Variants and Parkinson’s disease: Study Design to Evaluate Safety, Pharmacodynamics and Pharmacokinetics
Objective: To evaluate safety and biomarker effects of BIIB122/DNL151 in participants with pathogenic LRRK2 variants diagnosed with Parkinson’s disease (LRRK2-PD). Background: Increased LRRK2 kinase activity…
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