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…TNF compromises lysosome acidification and reduces α-synuclein degradation via autophagy in dopaminergic cells
Objective: To investigate the effect of TNF on α-synuclein degradation and to explore the potential role of autophagy-lysosome pathway involved in this processs. Background: In…Glucocerebrosidase activity in a cohort of PD patients
Objective: To evaluate glucocerebrosidase (GCase) activity in peripheral blood mononuclear cells (PBMCs) of a cohort of 53 PD patients with and without GBA mutations and…Dysregulated macroautophagy and mitochondrial dynamics in PD with glucocerebrosidase mutations
Objective: To investigate markers of macroautophagy and mitochondrial dynamics in fibroblasts and postmortem brain of Parkinson's disease (PD) patients with glucoerebrosidase (GBA1) mutations and controls.…A heterozygous splicing variant in NPC2 in a patient with PSP
Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…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…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…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…
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