Alpha-synuclein levels and dimerization in erythrocytes of Parkinson’s disease patients
Objective: To identify possible differences in monomeric/dimeric α-synuclein levels in erythrocytes derived from PD patients from different genetic backgrounds, and check for potential links between…Mitochondrial cardiolipin couples electron transport between ubiquinone and complex I to rescue PINK1 deficiency
Objective: Test the effect of loss of FASN on Pink1 deficiency. Background: PINK1 deficiency causes Parkinson's disease that is based on mitochondrial defects including inefficient…A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and…Investigation into the genetic etiology in South African Parkinson’s disease patients
Objective: To investigate the genetic etiology in a group of South Africa Parkinson's disease (PD) patients. Background: The genetic etiology of PD is complex and…Transcriptional profile of blood leukocyte in Parkinson’s disease patients after multi-modal exercise and tai chi training
Objective: With next-generation sequencing, we want to get a comprehensive characterization of circulating leukocyte in patients with PD, to interrogate the shared molecular processes perturbed…E326K GBA polymorphism and Parkinson’s disease in Russian population
Objective: Analysis the associations between the polymorphism E326K of the glucocerebrosidase gene (GBA) and Parkinson's disease (PD) in Russian population. Background: Parkinson's disease is one…Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…LRRK2 G2019S mutation carrier with an unusual phenotype: Progressive logopenic aphasia
Objective: To report the case of a patient carrying the G2019S mutation of the LRRK2 gene presenting with progressive logopenic aphasia and not manifesting PD…Elucidating mechanisms of endogenous disease protection resulting in reduced penetrance in PINK1 deficiency
Objective: To elucidate mechanisms of reduced penetrance in PINK1 deficiency. Background: Loss of PINK1 causes recessive early-onset Parkinson's disease (PD); however, how PINK1 deficiency results…Reduced lifespan and climbing ability observed in the overexpressing human α-synuclein without heat shock protein CNB115 in Parkinson’s disease drosophila line
Objective: To investigate the neurotoxic role of overexpressing α-synuclein without Heat Shock Protein CNB115 (HSP115) in Parkinson's disease Drosophila line. Background: Parkinson's disease (PD) is…