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

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...

Full description

Bibliographic Details
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
Format: Online
Language:English
Published: Elsevier Pub. Co 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778985/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778985/

Similar Items