Is early-onset of levodopa-induced dyskinesia a predictor of GBA mutation? A next-generation sequencing study of young-onset Parkinson’s disease patients in Thailand
Objective: To examine the prevalence of genetic causes in young-onset Parkinson’s disease (YOPD) patients with levodopa-induced dyskinesia (LID) in Thailand using a next-generation sequencing (NGS)…CHCHD2 maintains the MICOS and inhibits PINK1/Parkin mediated mitophagy in an experimental model of Parkinson’s disease
Objective: To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy in Parkinson's disease.To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy…Genetics and phenotypes of recessive parkinsonism in French and North African populations
Objective: To evaluate the mutation frequency in recessive genes and the associated phenotype in a large series of French and North African cases with Parkinson’s…Deep mitochondrial sequencing in Parkinson’s disease reveals possible genetic modifiers of reduced penetrance in Parkin/PINK1 mutation carriers
Objective: To discover potential penetrance biomarkers in mitochondrial DNA (mtDNA) for Parkin and PINK1 mutation carriers. Background: Biallelic mutations in Parkin and PINK1 are fully…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.