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In contrast, expression of the ATP5F1D c.245C>T and c.317T>G variants rescued the head-size phenotype but recapitulated the eye and antennae defects seen in other genetic models of mitochondrial oxidative phosphorylation deficiency.
In this review, we will summarize and discuss the different therapeutic interventions tested in some mouse models of mitochondrial diseases emphasizing the molecular mechanisms of action and their potential applications.
This assay will be useful for monitoring clonal expansions of mtDNA deletions and investigating the role of heteroplasmy in cell-to-cell heterogeneity in cellular models of mitochondrial disease and aging.
Pharmacological activation of NAD+ production has recently been used to treat mouse models of mitochondrial diseases.
I will further discuss how augmenting intracellular NAD+ content increases oxidative metabolism to prevent bioenergetic and functional decline in multiple models of mitochondrial diseases and age-related disorders, and how this knowledge could be translated to the clinic for human relevance.
The model is critical in developing mechanistic, integrated models of mitochondrial bioenergetics and Ca2+ handling.
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Long, Q. et al. Modeling of Mitochondrial Donut Formation.
Fan, W. et al. A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.
Our current finding is compatible with the previous study which showed that muscle mass was deceased in the mouse model of mitochondrial dysfunction16.
Recent evidence shows that rapamycin administered both intraperitoneally or in the diet delays disease onset and enhances survival in the Ndufs4 null mouse model of mitochondrial encephalopathy.
An in vitro model of mitochondrial dysfunction with subsequent oxidative stress was elaborated and utilized to study the effect of drugs, currently used for the treatment of Parkinson's disease, on pathological H2O2-evoked [3H]dopamine efflux and the formation of toxic dopamine metabolites in rat striatal slices.
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