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…Identification of gut microbial genes in Parkinson’s disease by shotgun metagenomic analysis
Objective: To carry out deep analysis on gut microbiome in patients with Parkinson’s disease (PD) and to evaluate the potential application for diagnosing PD patients…LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) -mediated ubiquitination attributed to localization of Mortalin to mitochondria
Objective: The pathogenic mechanism of UCHL1 in PD remains unclear. In this study, we aimed to investigate the role of UCHL1 in the pathogenesis of…Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives
Objective: To identify parkinsonian features in a cohort of GD patients and their relatives. Background: GD is a lysosomal storage disorder caused by GBA1 mutations…