PINK1 activation improves outcomes in the UQCRC1 models of Parkinson’s disease
Objective: To investigate the role of chronic oxidative phosphorylation (OXPHOS) stress in mitophagy and the therapeutic potential of PINK1 activation in the UQCRC1 models of…The Role of α7 Nicotinic Acetylcholine Receptor in Mitochondrial Homeostasis and Neuroprotection
Objective: This study aims to explore the neuroprotective role of α7 nicotinic acetylcholine receptor (α7nAChR) in mitochondrial homeostasis and its potential as a therapeutic target…Fatty Acid Metabolic Reprogramming Regulates Glial-Epithelial Axis via Nur77 Palmitoylation in Intestinal Dysfunction in Parkinson’s Disease
Objective: This study aims to elucidate the regulatory role of stearoyl-CoA desaturase 1 (SCD1) in Parkinson’s disease (PD)-associated intestinal dysfunction, focusing on its mechanism in…Cardiac Mitochondrial Complex I Integrity Predicts Axial Symptom Severity in Parkinson’s Disease
Objective: In the present work, we investigated whether cardiac mitochondrial dysfunction might also be associated with the severity of PIGD symptoms in PD patients. Background:…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…
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