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)…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…Parkinsonian Features in a Cohort of Gaucher’s Disease (GD) Patients and Relatives.
Objective: to investigate the prevalence and clinical features of parkinsonism in a cohort of 21 GD patients and their relatives. Background: GD is a lysosomal…Alterations in lipid metabolism modify GBA1-mediated neurodegeneration in a Drosophila model of Parkinson’s disease
Objective: To understand how glucocerebrosidase (GBA1) mutations increase susceptibility to Parkinson's disease (PD). Background: Our understanding of the pathogenesis PD remains limited, and currently no…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.…Muscle ceroid-lipofuscine-like deposits in a patient with FTD due to a progranulin mutation
Objective: We report a case of a Cortical Basal Syndrome (CBS) due to heterozygous Granulin (GRN) mutation who develops a lysosomal storage pathology characterized by…Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease
Objective: (1) To identify the genetic basis of young-onset or familial Parkinson's disease in South Africa; (2) to clinically characterize the phenotypes observed. Background: Mutations…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…
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