Two cases of parkinsonism with atypical genetics
Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…Sonographic investigation of Pisa syndrome in Parkinson’s disease
Objective: We hypothesized that the trunk muscles might have an impact on Pisa syndrome, so we performed a sonographic investigation of the trunk muscles of…PINK1-dependent clearance of depolarized mitochondria is driven by the UPS and can occur independently of (macro)autophagy
Objective: To disect the role of macroautophagy in PINK1-/Parkin-dependent removal of depolarized mitochondria. Background: The ubiquitin ligase Parkin and mitochondrial kinase PINK1 function together in…Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease
Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…Analysis of relationships between spinal deformity and walking ability in Parkinson’s disease patients
Objective: To determine the impact on walking ability of spinal deformity and imbalance as distinct from movement disorder in Parkinson's disease (PD). Background: Despite a…Neuromelanin imaging is useful for monitoring disease progression in Parkinson’s disease and PARK2
Objective: Using neuromelanin (NM)-MRI, we analyzed whether disease severity and MF is associated with the degree of dopaminergic neuronal degeneration in the substantial nigra compacta…Heterozygous PINK1 p.G411S mutation increases risk for Parkinson’s disease (PD)
Objective: To investigate the possible disease-association and pathogenic mechanisms of heterozygous PINK1 mutations from a genetic, functional, and structural perspective. Background: It has been postulated…Mitochondrial Hsp90 inhibitor G-TTP triggers PINK1/parkin-dependent mitochondrial quality control
Objective: To characterize the response of cells treated with Gamitrinib-triphenylphosphonium (G-TTP) a mitochondrial targeted inhibitor of the chaperone Hsp90. Background: Upon dissipation of the mitochondrial…Work-related stress and risk for Parkinson’s disease
Objective: To explore the association between work-related stress (job control and job demands) and the risk for Parkinson's disease (PD). Background: Chronic stress is associated…Temporal working memory deficit in Parkinson’s disease
Objective: To investigate whether temporal working memory (TWM) could be impacted in Parkinson's disease (PD). We also tested whether idiopathic PD patients (iPD) could be…
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