NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Por Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J
Publicado no Eur J Hum Genet (2017)

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells

Por Melcher, Marlen, Danhauser, Katharina, Seibt, Annette, Degistirici, Özer, Baertling, Fabian, Kondadi, Arun Kumar, Reichert, Andreas S., Koopman, Werner J. H., Willems, Peter H. G. M., Rodenburg, Richard J., Mayatepek, Ertan, Meisel, Roland, Distelmaier, Felix
Publicado no Stem Cell Res Ther (2017)