Metabolic modulation of mitochondrial DNA release in cellular models of Parkin-associated Parkinson’s disease
Objective: Our objective in this study was to elucidate the mechanisms underlying the release of mtDNA in cellular models of Parkin-associated Parkinson’s disease and to…A novel, population-specific PINK1 p.F385S loss of function mutation in an Indian family with Parkinson’s disease
Objective: To understand the molecular function of a novel missense PINK1 variant identified in an Indian family with Parkinson’s disease (PD). Background: The molecular understanding…Impacts of mutations in Parkinson’s disease-related genes on telomere maintenance
Objective: To investigate the correlation between telomere length (TL) and Parkinson’s disease (PD), and whether the change in telomere biology participates in PD pathogenesis. Background:…In vitro α–synuclein aggregation and propagation model
Objective: Developing an in vitro α–synuclein (α-s) aggregation and propagation model of human cortical networks for functionality studies. Background: Studying α–s pathology and its effects…The neuroprotective miRNA family hsa-miR-451 has a distinctive pattern of downregulation in neurodegenerative diseases.
Objective: 1.Identification of microRNAs from whole blood PBMCs of SCA2 patients by using NGS. 2.To check the exclusivity of miRNAs in SCA2, SCA1,SCA3,SCA12,HD,ALS,PD and MSA-C…Altered brain energetics in Parkinson’s Disease: a multimodal neuroimaging study
Objective: To investigate patterns of altered brain energetics in Parkinson’s disease (PD). Background: Alterations in mitochondrial function, related to brain energetics, may play an important…Impaired mitochondrial respiration as a peripheral tissue biomarker for stratifying idiopathic Parkinson’s disease
Objective: To determine whether structural and/or functional deficiencies of the mitochondrial respiratory chain (MRC) occur in the skeletal muscle of patients with idiopathic Parkinson’s disease…The mitochondrial risk score and lifestyle factors are associated with age at onset in LRRK2 p.Gly2019Ser Parkinson’s disease.
Objective: To investigate the relationship between a mitochondrial risk score (MRS), lifestyle and age at onset (AAO) in LRRK2 G2019S Parkinson’s disease (PD). Background: PD…Multimodal mechanistic disease stratification in sporadic Parkinson’s disease
Objective: To mechanistically stratify Parkinson’s disease (PD), applying a combination of putaminal 31Phosphorus magnetic resonance spectroscopy (31P-MRS) with detailed assessment of mitochondrial and lysosomal function…Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia
Objective: To identify genetic disease and efficacy markers for Friedreich’s ataxia (FRDA) Background: FRDA is a genetic disease caused by decreased expression of the mitochondrial…
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