Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Complex I (CI) deficiency is a frequent cause of mitochondrial disorders and, in most cases, is due to mutations in CI subunit genes encoded by mitochondrial DNA (mtDNA). In this study, we establish the pathogenic role of the heteroplasmic mtDNA m.3890G>A/MT-ND1 (p.R195Q) mutation, which affects...

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Main Authors: Caporali, Leonardo, Ghelli, Anna Maria, Iommarini, Luisa, Maresca, Alessandra, Valentino, Maria Lucia, La Morgia, Chiara, Liguori, Rocco, Zanna, Claudia, Barboni, Piero, De Nardo, Vera, Martinuzzi, Andrea, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Calvaruso, Maria Antonietta, Cappelletti, Martina, Porcelli, Anna Maria, Achilli, Alessandro, Pala, Maria, Torroni, Antonio, Carelli, Valerio
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Pub. Co 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778985/
https://ncbi.nlm.nih.gov/pubmed/23246842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2012.12.002
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