TAF1 and its isoforms is underexpressed in different endogenous models of X-linked dystonia-parkinsonism
Objective: To study the expression of TAF1 and its isoforms in different endogenous models of X-linked dystonia-parkinsonism (XDP). Background: The putative gene causing XDP, the…Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family
Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…Relationship between Alzheimer’s disease GWAS-linked top hits and risk of Parkinson’s disease with or without cognitive decline: A Chinese population-based study
Objective: We performed a case-control study in Chinese population to evaluate the association of AD genome-wide association study (GWAS) -linked top hits with both PD…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…Do environmental factors influence the age at onset of Parkinson’s disease in LRRK2 G2019S carriers?
Objective: To evaluate the influence of environmental factors on the age at onset of Parkinson's disease in LRRK2 G2019S carriers. Background: Environmental and lifestyle factors…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…Functional characterisation and the selective vulnerability of SNCA (A30P) patient-derived midbrain dopaminergic neurons to ER stress
Objective: To functional characterise and phenotype the genetic Parkinson's disease (PD) patient with an A30P point mutation in SNCA using midbrain dopaminergic neurons (mDANs) vs…Pre-formed fibrils injection worsen pathology caused by AAV-mediated over expression of α-synuclein
Objective: The overall goal is to produce a rat model of Parkinson's disease (PD), which reproduces progressive pathological changes, while displaying profound neuronal cell loss…SOD1 aggregation: A pathological link between Parkinson’s disease and amyotrophic lateral sclerosis?
Objective: To characterize (1) a novel association between superoxide dismutase 1 (SOD1) aggregation and neuronal loss in the Parkinson's disease (PD) brain and (2) the…
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