Results 41 to 50 of about 10,033,806 (381)
Advances in drug therapy for mitochondrial diseases.
Annals of Translational Medicine, 2020 Mitochondrial diseases are a group of clinically and genetically heterogeneous disorders driven by oxidative phosphorylation dysfunction of the mitochondrial respiratory chain which due to pathogenic mutations of mitochondrial DNA (mtDNA) or nuclear DNA (
Lufei Zhang +5 more
semanticscholar +1 more source
Changes in neuronal CycD/Cdk4 activity affect aging, neurodegeneration, and oxidative stress. [PDF]
, 2015 Mitochondrial dysfunction has been implicated in human diseases, including cancer, and proposed to accelerate aging. The Drosophila Cyclin-dependent protein kinase complex cyclin D/cyclin-dependent kinase 4 (CycD/Cdk4) promotes cellular growth by ...
de la Cruz, Aida Flor A +3 more
core +1 more source
Inhibition of the mitochondrial pyruvate carrier protects from excitotoxic neuronal death. [PDF]
, 2017 Glutamate is the dominant excitatory neurotransmitter in the brain, but under conditions of metabolic stress it can accumulate to excitotoxic levels.
Andreyev, Alexander Y +12 more
core +1 more source
High throughput single cell analysis of mitochondrial heteroplasmy in mitochondrial diseases
Scientific Reports, 2020 Mitochondrial heteroplasmy, which fundamentally means intracellular heterogeneity of mitochondrial DNA (mtDNA), has been measured in a group of cells, regardless of intercellular heterogeneity.
Ryotaro Maeda +4 more
semanticscholar +1 more source
Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation
Nature Communications, 2021 Heteroplasmic mtDNA mutations cause disease in humans. Here, Chung et al find the PI3K-Akt-mTORC1 pathway constitutively activated in cells with the heteroplasmic m.3243 A > G mutation, and inhibition of the pathway cell autonomously reduces mutant mtDNA
Chih-Yao Chung +12 more
doaj +1 more source
Mitochondrial disease in flies
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004 The Drosophila mutant technical knockout (tko), affecting the mitochondrial protein synthetic apparatus, exhibits respiratory chain deficiency and a phenotype resembling various features of mitochondrial disease in humans (paralytic seizures, deafness, developmental retardation).
Kevin M.C. O'Dell +5 more
openaire +3 more sources
Effects of oxidative stress on hepatic encephalopathy pathogenesis in mice
Nature Communications, 2023 Oxidative stress plays a crucial role in the pathogenesis of hepatic encephalopathy (HE), but the mechanism remains unclear. GABAergic neurons in substantia nigra pars reticulata (SNr) contribute to the motor deficit of HE.
Yunhu Bai +12 more
doaj +1 more source
Neuropathology of mitochondrial diseases
Bioscience Reports, 2007 The term “mitochondrial diseases” (MD) refers to a group of disorders related to respiratory chain dysfunction. Clinical features are usually extremely heterogeneous because MD may involve several tissues with different degrees of severity. Muscle and brain are mostly affected, probably because of their high dependence on oxidative metabolism.
FILOSTO M +7 more
openaire +5 more sources
Human mitochondrial degradosome prevents harmful mitochondrial R loops and mitochondrial genome instability [PDF]
, 2018 R loops are nucleic acid structures comprising an DNA-RNA hybrid and a displaced single-stranded DNA. These structures may occur transiently during transcription, playing essential biological functions. However, persistent R loops may become pathological
Aguilera López, Andrés +2 more
core +1 more source
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004 By convention, the term "mitochondrial diseases" refers to disorders of the mitochondrial respiratory chain, which is the only metabolic pathway in the cell that is under the dual control of the mitochondrial genome (mtDNA) and the nuclear genome (nDNA).
openaire +2 more sources