A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Perillyl alcohol restores mitochondrial dysfunction and abridge NLRP3 inflammasomes activation in in-vitro and in-vivo model of Parkinson’s disease
Objective: Parkinson's disease (PD) affects around 2-3% population of age greater than 65 and is the second most common neurogenerative disorder. The molecular mechanism underpinning…PARK2 p.Ala82Glu variant is not associated with Parkinson’s disease
Objective: The aim of the study was to analyze potential pathogenicity of the PARK2 p.Ala82Glu mutation, by functional studies of Parkin in the mitophagy paradigm…Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations
Objective: Characterization of novel of a novel CHCHD2 (C2) and CHCHD10 (C10) knockout mouse model. Background: Dominant mutations in the mitochondrial paralogs CHCHD2 (C2) and…Poly-ADP-ribose polymerase 1 modulates mitochondrial fission via LRRK2 in a rotenone-induced Parkinson’s disease model
Objective: To clarity the effects and mechanism of poly-ADP-ribose polymerase 1(PARP1) in regulating mitochondrial fusion/fission in a rotenone-induced Parkinson's disease (PD) model. Background: Accumulating evidences…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Nrf2 pathway in patients with Parkinson’s disease
Objective: To demonstrate the activation of Nuclear factor erythroid-2-related factor 2 (Nrf2) pathway in PD patients. Background: Experimental data indicated the critical involvement of Nrf2…Protective effects of β-Nicotinamide Adenine Dinucleotide against motor deficits and dopaminergic neuronal damage in a Parkinson’s disease mouse model
Objective: The aim of our study is to explore whether nicotinamide adenine dinucleotide (NAD) replenishment could be beneficial on a 6-hydroxydopamine-induced Parkinson’s disease (PD) mouse…Protective effect of anodal transcranial direct current stimulation on 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced neurotoxicity in mice via modulating mitochondrial dynamics
Objective: The present study elucidated the neuroprotective effects of tDCS on the mitochondrial quality control pathway in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced PD mouse model. Background: Abnormal…Mitochondrial Complex 1, Sigma 1 Receptor and Synaptic Vesicle protein 2A density in early de novo patients with Parkinson’s Disease: pilot PET data
Objective: In this study, we evaluated the density of Mitochondrial complex 1 (MC1), sigma 1 receptor (s1R) and Synaptic Vesicle protein 2A (SV2A) in early…
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