Mosaicism for somatic SNCA copy number variants in multiple system atrophy is related to pathological subtype and presence of α-synuclein inclusions
Objective: To investigate the correlation of somatic copy number variants (CNVs) of the alpha-synuclein gene (SNCA) in multiple system atrophy (MSA) with disease subtype, and…Blood-derived α-synuclein from Parkinson´s disease patients is able to seed pathology
Objective: To identify seeding capacities of soluble α-synuclein (α-syn) conformers derived from neuronal extracellular vesicles (NEs) from Parkinson´s disease (PD) patients. Background: PD pathology is…Protein aggregation and calcium dysregulation are the earliest hallmarks of synucleinopathy in enriched iPSC-derived human midbrain dopaminergic neurons
Objective: Develop and adapt a differentiation paradigm to produce enriched hiPSC-derived midbrain dopaminergic neurons (mDA), to resolve the temporal sequence of pathophysiological events in synucleinopathies.…CSF biomarkers in neurodegenerative parkinsonism can distinguish between multiple system atrophy and 4-repeat tauopathies, but not between disease with Lewy bodies and multiple system atrophy
Objective: To assess the usefulness of a defined set of blood-based and cerebrospinal fluid-based biomarkers in the differential diagnosis of neurodegenerative proteinopathies. Background: The diagnostic…GT-02287, a brain-penetrant structurally targeted allosteric regulator for glucocerebrosidase show evidence of pharmacological efficacy in conduritol β-epoxide (CBE) models of Parkinson’s disease
Objective: Demonstrate the involvement of our structurally targeted allosteric regulator Parkinson’s disease (PD) candidate, GT-02287, in decreasing the CBE-induced neurotoxic effect and in restoring lysosomal…Design of a prodromal screening study for subtypes in Parkinson’s Disease
Objective: To follow-up prodromal Parkinson’s Disease (PD) subtypes in a longitudinal cohort study, validating new biomarkers and ethical guidelines for early detection of PD. Background:…Multidimensional phenotyping of human stem cell-derived midbrain dopaminergic neurons from a SNCA triplication carrier for drug screening applications
Objective: We hypothesized that combining multiple Parkinson's disease (PD) relevant cellular phenotypes will increase the accuracy, stability, and usability of human midbrain dopaminergic (mDA) neuronal…Genetic stratification of motor and quality of life outcomes in Parkinson’s disease in the EARLYSTIM study
Objective: We identified (Weiss et al., 2016) that single nucleotide polymorphism (SNPs) of the alpha-synuclein gene (SNCA) predicted the motor effect of subthalamic nucleus stimulation (STN-DBS)…Phosphorylated α-synuclein at serine residue 129 decreased in Parkinson’s disease patients taking 250mg of daily niacin for six months
Objective: The main objective was to determine if α-synuclein could be modulated by niacin supplementation, contributing to improved Parkinson’s disease (PD) symptoms. Background: Niacin supplementation…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…
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