Insight into α-synuclein pathogenicity by a human cell model with suppressed NatB-mediated N-terminal acetylation
Objective: Our aim was to study α-syn Nt-acetylation and its impact on the disease-relevant properties of this protein in cell models to shed light on…The Syn-Q Study: Quantification of phosphorylated alpha-synuclein in patients with Parkinson’s disease and REM sleep behavior disorder
Objective: To define changes in cutaneous P-SYN quantitation over 18 months in patients with Parkinson’s disease (PD) and isolated REM sleep behavior disorder (iRBD).To define…Multi-Modal Profiling of Peripheral and Central Nervous System T Cells Identifies Cytotoxic α-Synuclein-Reactive Immunity in Multiple System Atrophy
Objective: To define α-synuclein-specific peripheral T cell responses in multiple system atrophy (MSA) in comparison with parkinson’s disease (PD) and healthy controls (HC), and to…SAA Positivity Rate Amongst Dual LRRK2-GBA1, GBA1 and LRRK2 Carriers with Parkinson’s Disease
Objective: We investigated positivity rate in dual GBA1+LRRK2-PD by comparing GBA1+LRRK2-PD carriers(n=13), GBA1-PD(n=169) and LRRK2-PD(n=175). Background: GBA1 and LRRK2 variants represent the most common genetic…GBA1 deficiency promotes tau and TDP-43 co-pathology
Objective: To determine whether mutations in the gene beta-glucocerebrosidase 1 (GBA1), the strongest genetic risk factor for PD, promote tau and TDP-43 co-pathology alongside Lewy…Identification of Alpha-synuclein Pathology in Idiopathic Rapid Eye Movement Sleep Disorder Participants by Seed Amplification Assay
Objective: To assess correlations between cerebrospinal fluid (CSF) α-synuclein seed amplification assay (synSAA) and the phenoconversion rate, timing, and final diagnosis of idiopathic rapid eye…Disrupted Lipid Homeostasis and Mitochondrial Remodeling in A53T α-Synuclein Astrocytes
Objective: This study explores lipid metabolic alterations in human astrocytes carrying the A53T α-synuclein mutation and examines their link to mitochondrial organization and cellular bioenergetics.…Heart Rate Variability as an Independent Predictive Biomarker for Fall Risk in Multiple System Atrophy
Objective: To evaluate the predictive value of short-term heart rate variability (HRV) parameters in assessing recurrent fall risk among patients with Multiple System Atrophy (MSA).…Sudomotor Dysfunction in Patients With Normal and Abnormal Cardiac MIBG
Objective: We examined the pattern of sweat loss in patients with normal versus abnormal MIBG and considered the implications of this in predicting phenoconversion trajectory.…Genotype Matters: Vagus Nerve Atrophy in GBA-Associated Parkinson’s Disease
Objective: The aim of this study is to compare the right and left vagus nerve (VN) cross-sectional area (CSA) and autonomic symptoms in patients with…
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