α-Synuclein molecular behavior and proteomic profiling distinguish subtypes of Lewy body disorders
Objective: We hypothesized that the clinical heterogeneity found in Lewy body disorders is a consequence of the molecular diversity of αSyn between different patients as…Increased alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease
Objective: To assess glucocerebrosidase and alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease with and without GBA1 mutation. Background: Parkinson’s disease (PD)…The role of GBA1 mutations in the relationship between GBA1 and alpha-synuclein in Parkinson disease
Objective: The aim of the study was to understand how the E326K GBA1 mutation results in an increased risk for Parkinson disease, through influencing the…Sex differences in vascular risk factors for Parkinson’s disease
Objective: Our aim is to illustrate the incidence of vascular risk factors (VRF) in a cohort of patients with confirmed Parkinson's disease (PD) and characterize…Mitochondrial and autophagy alteration in a new fatty acid hydroxylase-associated neurodegeneration (FAHN) model
Objective: Establishing a FAHN Drosophila model to identify cellular disease mechanisms. Background: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is an early-onset neurodegenerative disease that manifests brain…Effect of Venglustat by GBA Mutation Severity in Patients With Parkinson’s Disease
Objective: Report outcomes from Part 2 of the phase 2 MOVES-PD trial (NCT02906020) in patients with PD stratified by glucocerebrosidase (GBA) gene mutation severity. Background:…Ultrastructural Characterization of Monocytes in Parkinson’s Disease and GBA mutations
Objective: To identify morphological changes in circulating CD14+ monocytes in manifesting and non-manifesting carriers of mutations of the GBA gene and Parkinson’s disease (PD). Background: Mutations of…Lipid metabolism alterations in the lysosomal membrane promotes chaperone-mediated autophagy dysfunction and alpha-synuclein pathology in Parkinson’s disease associated to GBA
Objective: The objective of this study was to generate and characterize a new in vitro neuronal model of Parkinson's diseases associated to GBA (PD-GBA) that…Close relationship between CSF lipidomic alterations and cognitive decline in Parkinson’s disease.
Objective: To clarify what the lipidome of biological samples reflects in the pathology of Parkinson’s disease (PD). Background: The lipid pattern in the cerebrospinal fluid…PLA2G6-Associated Neurodegeneration: A Continuum of Phenotypes
Objective: To characterize the spectrum of phenotypes of PLA2G6-associated neurodegeneration in a single patient. Background: The phospholipase A2 Group VI (PLA2G6) gene encodes a cytosolic and…
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