SNCA multiplication consortium: Clinicogenetic analysis of SNCA multiplication probands and families.
Objective: Clinicogenetic analysis of 57 affected probands with SNCA multiplication, 3 unaffected carriers, and their 60 families. To use informative pedigrees to identify penetrance modifiers…A neuronal model of PARK20 (SYNJ1 mutation) using patient derived iPSCs
Objective: The SYNJ1 homozygous mutation (p.Arg258Gln) leads to juvenile Parkinsonism (PARK20). SYNJ1 plays an important role in synaptic vesicle cycling, and regulating autophagic flux. We…Mitochondrial DNA variants function as potential genetic risk factors for Parkinson disease
Objective: To understand whether mtDNA variants contribute to the susceptibility to sporadic PD. Background: It is well-recognized that mitochondrial (mt) dysfunction is involved in the…eEF1A2 promotes cell survival and protects against MPP+-induced apoptotic neuronal death through the PI3K/Akt/mTOR pathway
Objective: To assess the correlation of eEF1A2 and PI3K/Akt/mTOR expression and investigate the pro-survival role of eEF1A2 in NG108-15 rodent neuroglioma cells. Background: Eukaryotic protein…Association of the GBA T369M polymorphism with motor and cognitive symptoms in Parkinson’s disease
Objective: To determine whether the GBA polymorphism T369M is associated with earlier age of onset, lower cognitive performance, and more severe motor impairment in Parkinson's…How common are the genomic rearrangements among possibly autosomal recessive PD cases in Turkey?
Objective: In this study, we aimed to investigate the frequency and phenotypical features in a subset of early-onset Parkinson’s disease (EO-PD) (age-at-onset ≤45 years) patients due…Neuroprotection of indole-derivative compound NC001-8 in Parkinson disease cell model by regulatory of NRF2 pathway
Objective: The goal of this study is to investigate the effects of indole-derivative compound NC001-8 on neuroprotection in PD disease cell model. Background: Parkinson’s disease…Physical and cognitive stimulation through environmental enrichment prevents early molecular pathology in a Parkinson´s disease model
Objective: Understand the molecular principles and identify genetic drivers underlying and mitigating the preventative effects of environmental enrichment on the unfolding of Parkinson´s disease (PD) pathology.…The therapeutic effect of MANF in the MPTP/MPP+-induced model of Parkinson’s disease
Objective: To observe therapeutic effect of MANF in the attenuation of neurotoxin MPTP/MPP+-induced model of Parkinson's disease Background: Mesencephalic astrocyte-derived neurotrophic factor (MANF) is a…Genetic analysis of RAB39B mutations in early-onset and familial Parkinson’s Disease in a Taiwanese population.
Objective: To examine the genetic contribution of RAB39B to early-onset and familial PD in a Taiwanese population. Background: Loss of function mutations in RAB39B were…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.