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.…SLP-2 modulated expression rescues mitochondrial function in alpha-synuclein neuropathology models
Objective: Validate the rescue potential of SLP-2 induction for α-synuclein (aSyn)-induced mitochondrial pathology and neurodegeneration in two complementary models: human induced pluripotent stem cell (hiPSC)-derived…Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients
Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells…To stimulate or not to stimulate? Bilateral subthalamic (STN) Deep Brain Stimulation (DBS) in cases of young-onset parkinsonism with mitochondrial dysfunction induced neurodegeneration.
Objective: To describe two cases of young-onset parkinsonism (YOP; case 1 with mitochondrial membrane protein associated neurodegeneration (MPAN) due to a heterozygous mutation in C19orf12;…
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