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…Impaired Mitophagy and Mitochondrial-energetics in Parkinson’s disease: A Novel Therapeutic Strategy of Re-tasking Felodipine
Objective: This study aimed to validate impairment of mitochondrial energetics and mitophagy in PD and the action of felodipine in restoring altered Mitochondria-lysosome (Mito-Lyso) homeostasis.…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…Tissue Frataxin Increases After Administration of CTI-1601, a Frataxin Replacement Therapy in Development for the Treatment of Friedreich’s Ataxia
Objective: To evaluate the pharmacodynamic (PD) and safety profiles of subcutaneous (SC) administration of multiple ascending doses of CTI-1601 in patients age ≥18 years with…
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