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…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.…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…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…
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