Distinct roles of PARK2, PINK1, and LRRK2 in neuroinflammation: resistance and susceptibility in immune-mediated mouse models
Objective: To investigate the impact of PARK2, PINK1, and LRRK2 deficiency on neuroinflammation in aging, using immune-mediated mouse models. Background: Emerging evidence links mitophagy-related genes, including PARK2 (PARKIN), PINK1, and LRRK2, to immune…LRRK2 Mutation in a Patient with NMDA and GAD 65 Antibodies
Objective: To describe case of a patient who presented with a history of autoimmune encephalitis with NMDA receptor and GAD 65 antibodies positive in cerebrospinal…Alterations of Plasma Membrane in Parkinson’s disease LRRK2 I1371V iPSC derived Astrocytes contribute to the vulnerability of the niche cells to Extracellular α-Synuclein
Objective: This study investigates the impact of LRRK2 I1371V mutation on astrocyte plasma membrane dynamics & its association with extracellular α-synuclein using astrocytes derived from…Unraveling the Genetic Architecture of Progressive Supranuclear Palsy in East Asians
Objective: We aim to elucidate the genetic architecture of progressive supranuclear palsy (PSP) in East Asians through whole-exome sequencing in a multi-center study in Taiwan.…Patient-specific Vascularized Midbrain Assembloids with Microglia show Altered Neuroinflammatory Phenotypes in Parkinson’s Disease
Objective: This study aims to develop patient-specific vascularized midbrain assembloids incorporating microglia to better model the neuroinflammatory environment of Parkinson’s disease (PD). By integrating vascular…Atypical Parkinsonism with LRRK2 Mutation Presenting as Multiple System Atrophy
Objective: We describe a rare case of atypical parkinsonism associated with leucine-rich repeat kinase 2 (LRRK2) gene mutation presenting with clinical features suggestive of multiple…Interrogating GCase Activity in Human Monocytes Isolated from Parkinson’s Disease Patients Carrying the Asian LRRK2 G2385R and R1628P Variants
Objective: To compare Glucocerebrosidase-1 (GCase) activity in human monocytes of manifesting LRRK2 G2385R, R1628P, and double-variant carriers vs. idiopathic Parkinson’s disease (iPD) and healthy controls…A Multidimensional Biomarker Panel for The Early Detection of Parkinson’s Disease
Objective: To explore the potential of a multidimensional biomarker panel integrating motor, non-motor, biochemical, metabolic, genetic, and neuroimaging biomarkers to increase sensitivity and specificity of…Prevalence and Local Ancestry of LRRK2 p.Q1111H in Latin American Cohort
Objective: To expand upon previous work assessing the prevalence of the LRRK2 p.Q1111H variant in Latin America and implement local ancestry analysis to assess ancestral…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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