A novel single-cell reporter identifies regulators of the endogenous PINK1-Parkin mitochondrial quality control pathway
Objective: We aimed to identify genome-wide regulators of the PINK1-Parkin pathway using a novel flow cytometry reporter, endogenously tagged MFN2, as a readout of the…Clinico-genetic profile of five patients with PARK-PINK1: A case series from India
Objective: The aim of our study is to describe the clinical features and genetic profile of patients of PARK-PINK1 and to draw correlation with genetic…Genetic study of early-onset Parkinson’s disease in the Malaysian population
Objective: This study aimed to investigate the genetic architecture of EOPD in a multi-ethnic Malaysian cohort. Background: About 5-10% of Parkinson’s disease (PD) cases are…Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families
Objective: To characterize the family history and clinical features of mutations of the PINK-1 gene in a cohort of Tunisian patients with Parkinson disease (P.D)…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 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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.