Modeling Inflammation in GBA-Associated Parkinson’s Disease: Insights into Disease Mechanisms
Objective: This investigation centers on the role of inflammation in GBA-associated Parkinson’s disease (PD), a neurodegenerative disorder characterized by the progressive degeneration of dopaminergic neurons,…Neuroprotective Effects of ATP6V0C Overexpression in PFF Model Mice
Objective: Elucidating the role of lysosomal dysfunction due to altered stability and expression levels of V-type proton subunit ATP6V0C in the degradation and propagation of…Rescuing alpha-synuclein toxicity through neuron-specific enhancement of autophagy
Objective: In the present study, we aim to counteract regulatory and transcriptional modifiers of autophagy to enhance neuroprotective proteostasis and rescue alpha-synuclein (asyn) toxicity in…Exome-wide Burden Analysis Identifies SYT10 as a Genetic Modifier of GBA-PD in UK Biobank
Objective: Identify potential genetic modifiers of GBA1 risk on Parkinson’s disease (PD). Background: GBA1 is a common genetic risk factor for PD. GBA1-carrying PD cases…Impact of rare lysosomal gene variants on Parkinson’s disease
Objective: To investigate the contribution of rare variants in lysosomal genes to Parkinson’s disease (PD) susceptibility. Background: Variants in the lysosomal gene GBA1 are established…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…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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