The role of Parkinson’s disease-associated RHOT1/Miro1 variants in mitochondrial dysfunction and impaired cellular quality control
Objective: In the present study we intent to investigate the effect of mutant Miro1 proteins on mitochondrial function and cellular quality control mechanisms in iPSC-derived…CHCHD2 maintains the MICOS and inhibits PINK1/Parkin mediated mitophagy in an experimental model of Parkinson’s disease
Objective: To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy in Parkinson's disease.To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy…Blood brain barrier dysfunction cause idiopathic adult onset ventriculomegaly?
Objective: Our hypothesis is BBB disruption causes idiopathic adult onset ventriculomegaly (IAOV) also, astrocyte specific mitochondrial dysfunction is associated with BBB damage. Background: The cause…Combination Therapy of Ellagic Acid and Mucuna Pruriens Seeds Extract Improves Rotenone Induced Behavioural, Oxidative and Mitochondrial Deficits in Mice Model of Parkinson’s Disease
Objective: The present study was designed in order to explore the possible synergistic effect of two highly naturally occurring bio-active compounds viz. Ellagic acid (EA)…PLG restores the balance of autophagy and apoptosis by increasing BCL2 phosphorylation in rotenone-induced Parkinson disease models
Objective: Parkinson disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease and there are few treatments currently available. The present study investigated…Mitochondrial morphometrics in idiopathic Parkinson‘s disease fibroblasts
Objective: To identify mitochondrial morphometric phenotypes in fibroblasts derived from patients with idiopathic Parkinson’s disease (IPD). Background: Mitochondrial dysfunction (MD) has been proposed as cellular…Genetic defects causing complex movement disorders and basal ganglia degeneration in childhood
Objective: To characterize genotype–phenotype correlations in basal ganglia degeneration (BGD) in childhood. Background: BGD in childhood causes movement disorders, neurodevelopmental dysfunction and long-lasting severe disability.…Movement disorders in mitochondrial disease: Radio clinical correlation in pediatric patients
Objective: Investigate the clinical features of movement disorders (MD), as well as brain imaging findings, in order to identify a radio-clinical correlation in mitochondrial diseases…Juvenile parkinsonism associated with a novel HSD17B10 mutation in a patient with HSD10 disease
Objective: We describe the case of a female patient with HSD10 disease associated with parkinsonism, with a novel mutation in the HSD17B10 gene. Background: HSD10…Mitochondrial phenotype related to the A30P alpha-synuclein mutation as a patient-derived cellular model of Parkinson’s disease
Objective: Our study aims to perform detailed phenotyping of the A30P alpha-synuclein familial case of PD, allowing to identify underlying mechanisms of the disease that…
