Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Heteroplasmic mtDNA mutations typically act in a recessive way and cause mitochondrial disease only if present above a certain threshold level. We have experimentally investigated to what extent the absolute levels of wild-type (WT) mtDNA influence disease manifestations by manipulating TFAM levels...

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Detalhes bibliográficos
Publicado no:Sci Adv
Main Authors: Filograna, R., Koolmeister, C., Upadhyay, M., Pajak, A., Clemente, P., Wibom, R., Simard, M. L., Wredenberg, A., Freyer, C., Stewart, J. B., Larsson, N. G.
Formato: Artigo
Idioma:Inglês
Publicado em: American Association for the Advancement of Science 2019
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6447380/
https://ncbi.nlm.nih.gov/pubmed/30949583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.aav9824
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