Screening for GBA1 p.K198E PD-Risk Variant in Latin America
Objective: We aimed to assess the distribution of the GBA1 p.K198E variant, linked to Gaucher’s disease (GD) and increased Parkinson’s disease (PD) risk, across Latin…CAP-003, a CNS-targeted IV-delivered AAV Gene Therapy Developed for Patients with Parkinson’s Disease associated with GBA1 Mutations
Objective: CAP-003 is a next-generation gene therapy candidate, comprising a novel brain-tropic capsid paired with hGBA1 cargo, that was developed for administration as a single…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Modifiers of Parkinson’s disease associated with mutations in the GBA1 gene based on transcriptome data validation
Objective: To identify modifiers of Parkinson's disease (PD) among carriers of mutations in the GBA1 gene based on transcriptome data validation analysis by the assessing…Oligodendrocyte-specific mRNA therapy with lipid nanoparticles
Objective: To develop lipid nanoparticles with high efficiency and specificity to introduce mRNA into oligodendrocytes. To denmonstrate the potential therapy of Krabbe disease as one…G-Can, the GBA1 Canada Initiative
Objective: G-Can, the GBA1 Canada Initiative, is an open-science platform which aims to advance GBA1 research and develop treatments for GBA1 mutation-related Parkinson's disease (PD).…Investigating the cellular consequences of the G2385R LRRK2 variant
Objective: The objective of this study is to characterise the biochemical and cellular impact of the G2385R coding variant in LRRK2, a risk variant for…Interaction of GCase and ganglioside GM1 in the aggregation of α-Synuclein
Objective: The objective of this work is to investigate the relationship between ganglioside GM1 levels and α-synuclein aggregation in the context of GBA1 mutations. Background:…Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction
Objective: To characterize a new brain disorder associated with BORCS5 variants, elucidating their effect on lysosomal distribution and activity Background: BORCS5 encodes a subunit of…Prevalence of Parkinson’s Disease and Possible Parkinsonian Syndrome in Gaucher Disease: Data From the ICGG Gaucher Registry
Objective: To estimate the age-specific risk of Parkinson’s disease (PD) and possible parkinsonian syndrome (pPS) in Gaucher disease (GD) based on registry data. Background: While…
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