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…Lysosomal network defects in parkinsonian patients carrying rare variants in lysosomal hydrolytic enzyme genes
Objective: Functional validation of rare variants of lysosomal genes potentially associated with early onset Parkinson's disease (EOPD) Background: The genetic load in EOPD is high;…V-ATPase subunit V1G1 overexpression conferred the mice neuroprotection during MPTP exposure
Objective: Elucidating the role of lysosomal dysfunction due to altered stability and expression levels of V-type proton ATPase subunit G (V1G1) in the degradation and…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:…A juvenile onset Sandhoff disease case caused by hemizygous mutations of HEXB
Objective: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed…Impaired lysophagy function exacerbates propagation of α-synuclein aggregation
Objective: We aimed to clarify how exogenous αSyn aggregates interact with native αSyn in the cytoplasm and seed aggregation, and what defense mechanisms protect against…Glucocerebrosidase (GCase) activator, Ambroxol, reduces alpha-synuclein serine-129 phosphorylation and oligomers in mutant LRRK2 R1441G mouse brains
Objective: To explore whether inducing brain GCase activity by Ambroxol™ (ABX; a brain-penetrant GCase activator) can reduce a-synuclein (αSyn) serine-129 phosphorylation and oligomer accumulation in…The spectrum of GBA mutations in the Korean population with Parkinson’s disease
Objective: We investigated the mutation spectrum of glucocerebrosidase (GBA) gene in Korean patients with Parkinson’s disease (GBA-PD). Background: Mutations in the GBA gene represent important…Cholinergic topography and clinical profile of early Parkinson’s patients with GBA mutations
Objective: To explore the regional cholinergic innervation and clinical profile of early Parkinson’s disease (PD) patients carrying GBA mutations (GBA-PD). Background: The most common genetic…
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