Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese
Objective: The aim of the study was to investigate the relationship between 12 single nucleotide polymorphisms (SNPs) and Parkinson’s disease (PD) in Chinese population. Background:…Increased Parkin expression in a PARK20 (SYNJ1 mutation) iPSCs-based model
Objective: To generate mechanistic insight into how the SYNJ1 p.Arg258Gln mutation leads to neurodegeneration in juvenile Parkinsonism. Background: In humans, the SYNJ1 homozygous p.Arg258Gln missense…Knockdown of eEF1A2 reduced neuronal survival in a SH-SY5Y cellular model of Parkinson’s disease through the PI3K/Akt/mTOR pathway
Objective: To investigate whether eEF1A2 promotes neuronal survival through PI3K/Akt/mTOR pathway in a toxin-induced Parkinson’s disease model. Background: Parkinson’s disease is a common neurodegenerative disorder…PD associated with GBA and LRRK2 mutations: Genotype-phenotype correlation
Objective: To study differences in disease characteristics in PD associated with 1 or 2 mutations in the most common PD-associated genes in the Ashkenazi Jewish…Application of the Movement Disorder Society Prodromal Criteria in healthy G2019S-LRRK2 carriers
Objective: To evaluate the MDS prodromal criteria in first-degree relatives of Ashkenazi Jewish G2019S-LRRK2 PD patients, who are considered a population at risk for developing…Survival of patients with Parkinson’s disease is influenced by the mutations in the LRRK2 but not GBA gene
Objective: To assess the impact of common genetic mutations on Parkinson's disease survival. Background: The prognosis of Parkinson's disease (PD) is heterogeneous with many factors…The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population
Objective: The potential association between the single-nucleotide polymorphism of two functional genes (SREBF1gene rs11868035 and USP25 gene rs2823357) and susceptibility to Parkinson’s disease (PD) in…Determining the effect of the HNMT, STK39 and NMD3 polymorphisms on the incidence of Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in Chinese populations
Objective: To investigate associations between 3 variants (HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896) and PD, multiple system atrophy (MSA) as well as amyotrophic lateral…Mitochondrial phenotype related to the A30P alpha-synuclein mutation as a patient-derived cellular model of Parkinson’s disease
Objective: Our study aims to perform detailed phenotyping of the A30P alpha-synuclein familial case of PD, allowing to identify underlying mechanisms of the disease that…Resting state networks abnormalities among healthy LRRK2 mutation carriers
Objective: To assess the integrity of resting state networks in non-manifesting carriers of the G2019S mutation in the LRRK2 gene. Background: Non-manifesting first degree relatives…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.