Mitochondrial impairment and rescue in riboflavin responsive neuropathy
Andreea Manole, Zane Jaunmuktane, Iain Parry Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar Daniel Bello, Simon A. S. Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, , Henry Houlden
This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.
Brain · Aug 23, 2017Peer-reviewedNeuroscience