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…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…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…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Genetic Identification of early-onset parkinsonism among Norwegian patients
Objective: To investigate the genetic etiology of early-onset (AAO > 45 Years) parkinsonism. Background: Parkinsonism is a neurological syndrome characterized by resting tremor, rigidity, bradykinesia…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.