Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Parkinson’s disease associated SORL1 variants impair mitochondrial and endo-lysosomal function
Objective: We investigate the relationship between Sortilin-related receptor (SORL1) gene and PD, along with their functional implications. Background: Parkinson's disease (PD) is a common neurodegenerative…The Effect of an Exogenous Ketone Supplement on Gut Microbiota in Parkinson’s disease, a Pilot Study
Objective: To investigate the effect of exogenous oral ketone esters on gut microbiota in people with PD. Background: Mitochondrial dysfunction in the substantia nigra and…A Patient with Overlapping SPG7 mutation and MERRF
Objective: To describe the first case of concomitant spastic paraplegia type 7 (SPG7) and myoclonic epilepsy with ragged red fibers (MERRF) in a patient with…Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO), A Novel Retinal Mitochondrial Biomarker For Parkinson’s Disease
Objective: Using fluorescence-lifetime ophthalmoscopy (FLIO), we identified retinal mitochondrial changes in Parkinson’s disease (PD) patients compared to controls. Background: FLIO, a novel non-invasive, in vivo…Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India
Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…GPR30 agonists attenuate haloperidol-induced neurotoxicity in SH-SY5Y cells and adult zebrafish.
Objective: Objective:1. To investigate the neuroprotective effect of FDA-approved compounds (Raloxifene and Fulvestrant) against haloperidol-induced neurotoxicity in SHSY-5Y cells and adult zebrafish2. To explore the molecular…PMM2 mutation
Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…Neuroprotective Action of Betulin in Parkinson’s disease: Alleviating Mitochondrial Dysfunction and Oxidative Stress-Induced Apoptosis in rat model
Objective: The objective of this study was to evaluate the neuroprotective efficacy of Betulin in MPTP-induced mice models of Parkinson's disease (PD), focusing on its…Targeting miR-27 with Antisense Oligonucleotides for Disease Modification in Parkinson’s Disease
Objective: Achieve disease modification in idiopathic Parkinson’s Disease through miR-27 targeting using Antisense Oligonucleotides Background: There are currently no disease-modifying therapies for Parkinson’s Disease (PD).…
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