Protective role of astrocytes on α-synuclein accumulation and propagation
Objective: This study is aimed to investigate the role of astrocytes on the accumulation and propagation of α-synuclein (a-syn), the main component of Lewy bodies/neurites,…New compound increasing glucocerebrosidase activity on primary cell cultures obtained from patients with GBA-associated Parkinson’s disease
Objective: To determine whether new chemical modifications of the previously described allosteric GCase chaperone N607 (Aflaki E et.al Neurosc. 2016) increase GCase activity in monocyte-derived…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Dysphagia in Adults with Niemann-Pick Disease Type C
Objective: We aimed to (1) characterise baseline swallow function in people with NPC and (2) evaluate the impact of Miglustat treatment on the swallowing process.…Looking “cherry red spot myoclonus” in the eyes
Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…Impaired lysosomal catabolism of alpha-synuclein in parkinsonian LRRK2(R1441G) mutant mouse embryonic fibroblasts
Objective: Using a unique fluorescence-based flow cytometry assay on LRRK2(R1441G) mutant mouse embryonic fibroblasts (MEFs) to elucidate whether pathogenic LRRK2 mutation affects cellular lysosomal degradation…Ambroxol treatment of primary macrophages derived from patients with GBA-associated Parkinson’s disease
Objective: The aim was to evaluate the effectiveness of the restoration of GCase activity in macrophages from GBA-PD patients using pharmacological chaperone ambroxol. Background: Mutations…Prevalence of Fabry disease among patients with Parkinson’s disease
Objective: To determine the prevalence of Fabry disease (FD) among patients with Parkinson’s disease (PD). Background: Increased prevalence of PD disease has been previously reported…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…Expression profiles from CD14+ monocytes in PD patients with GBA mutations
Objective: To study the pathogenic mechanisms associated with mutations of the GBAgenes in Parkinson’s disease (PD). Background: Mutation of GBA(encoding for glucocerebrosidase, GCase) is one of…
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