Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…Lysosphingolipids accumulation in macrophage model of Gaucher disease
Objective: The aim of this study was to investigate if GCase deficiency in macrophage model of GD lead to lysosphingolipids accumulation. Background: Mutations in the…Pharmacological modulation of lysosomal glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson’s disease
Objective: To study the pharmacological modulation of glucocerebrosidase activity in the Thy1-aSYN mouse model of Parkinson's disease (PD). Background: PD is a complex neurodegenerative disorder…Exosomal alpha synuclein secretion is beneficial for cellular models of Kufor-Rakeb syndrome
Objective: The purpose of this study is to investigate the effect of induction of exosomal a-syn secretion on PARK9-mediated neurotoxicity. Background: Kufor-Rakeb syndrome (KRS) is…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…An early-onset parkinsonism revealing a Gaucher disease with a heterozygous mutation in GBA gene: A case report
Objective: To report a case of a late-onset Gaucher disease (GD) revealed by an atypical Parkinson disease. Background: GD is an autosomal recessive lysosomal disorder,…FDG-PET and metabolomics in PD-associated GBA variants
Objective: To assess the clinical, cognitive, metabolic, and imaging phenotypes of PD patients carrying the variants p.E365K and p.T408M in the GBA gene (NM_000157.3). Background:…The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population
Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in…Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)
Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…Cerebrospinal fluid lysosomal enzymes and cognition in Parkinson’s disease
Objective: To evaluate cerebrospinal fluid (CSF) levels of lysosomal enzymes and assess their relationship with cognition in PD as potential early biomarkers of cognitive failure.…
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