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…GPNMB protein levels in CNS are modulated by PD risk variant rs199347
Objective: This study evaluates protein quantitative trait loci (pQTL) effect of single nucleotide polymorphism (SNP) rs199347 in modulating glycoprotein non-metastatic melanoma protein B (GPNMB) expression…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…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…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…