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…A large-scale full GBA1 gene screening in Parkinson’s disease in the Netherlands: 18 novel and 1 ‘Dutch’ variant
Objective: Assess the entire GBA1 gene in Parkinson’s disease from a single large population. Background: The commonest genetic risk factor for Parkinson’s disease known to…Human induced pluripotent stem cells (iPSCs) as a model for the study of neural development in Parkinson’s Disease patients carrying GBA mutations
Objective: The aim of this study is to evaluate in vitro development of human induced pluripotent stem cells (iPSCs) [1] derived from fibroblasts of Parkinson’s…Variants in the saposin D domain of prosaposin gene are linked to Parkinson’s disease
Objective: To investigate whether the variants of prosaposin can be linked to Parkinson's disease (PD) [1]. Background: Recent growing investigations have promoted the evidence of…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…GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
Objective: To characterize a patient with GBAand ATP13A2gene mutations. Background: Mutations of GBA(Glucocerebrosidase) and ATP13A2(P5-ATPase) genes are risk factors for Parkinson’s disease (PD). Homozygous mutations…GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
Objective: Identify among patients attending the Movement Disorders Unit at the National Institute of Neurology and Neurosurgery, Mexico, if glucocerebrosidase (GBA) mutations were present in…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.