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…Evidence for dysregulation of inflammatory mechanisms involving the NF-κB complex in the living parkinsonian brain
Objective: Sequence RNA in cortical samples taken from living PD patients to detect significant differentially expressed genes (DEGs) and altered biological pathways when compared to…Nucleotide repeats as genetic risk factors in a Swedish Parkinson’s disease cohort
Objective: To search for abnormal NRE in the following genes: ATXN2, ATXN3, CACNA1A, TBP, c9orf72, PRNP, POLG1A and TOMM40 in a Swedish PD cohort. Background:…Nurr1 gene: A new research target for Parkinson’s disease
Objective: The objective of our study is to determine if Nurr1 gene, a transcription factor essential for dopamine (DA) neuron development and survival, is a…Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)
Objective: To determine the interaction between glucocerebrosidase deficiency and acid sphingomyelinase deficiency in a tractable vertebrate model system of Parkinson's disease. Background: Heterozygous glucocerebrosidase (GBA)…Expanding the canvas of PARKIN mutations and clinical phenotypes in familial and early onset Parkinson’s disease patients
Objective: To identify PARKIN mutations in PD patients with familial history (FPD) and early onset PD patients with no family history (EOPD; ≤50 years) and…A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene
Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…
