Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

• Main Authors: La Piana R., Weraarpachai W., Ospina L., Tetreault M., Majewski J., Bruce Pike G., Decarie J., Tampieri D., Brais B., Shoubridge E.
• Format: Journal
• Published: 2017
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008500706&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/40619
• Institution: Chiang Mai University

© 2017, Springer-Verlag Berlin Heidelberg. Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy,...