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…Lysosomal-driven reduction of alpha-synuclein aggregates in a neuron-like model of Parkinson’s disease
Objective: To test whether PIKfyve inhibition results in a lysosomal-driven reduction of alpha-synuclein aggregates in a mutant neuroblastoma cell line overexpressing an aggregation-prone form of…Increased alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease
Objective: To assess glucocerebrosidase and alpha-synuclein level in primary macrophages derived from patients with Parkinson’s disease with and without GBA1 mutation. Background: Parkinson’s disease (PD)…Polymorphisms in Prosaposin gene are associated with familial and early-onset Parkinson’s disease: A case-control association study and meta-analysis
Objective: To investigate the role of the PSAP gene in PD patients in Taiwan, including familial PD and early-onset Parkinson’s disease. Background: Mutations in the…Investigation of Modifiers of β-Glucocerebrosidase in Cell Models of Parkinson’s Disease
Objective: We firstly aim to identify modifiers of β-glucocerebrosidase (GCase) activity and expression in Parkinson’s disease (PD) relevant cell models. We secondly aim to ascertain…GLA-associated early-onset Parkinson’s disease: the mimicry between Fabry disease and parkinsonisms
Objective: To characterize an early-onset Parkinson’s disease (EOPD) patient with atypical clinical phenotype. Background: Genome sequencing is allowing new Parkinsonian Syndromes (PS)-associated genes identification. However,…
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