Article
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.
The Journal of clinical investigation - 1 Mar 2016
Schoenmakers Erik, Carlson Bradley, Agostini Maura, Moran Carla, Rajanayagam Odelia, Bochukova Elena, Tobe Ryuta, Peat Rachel, Gevers Evelien, Muntoni Francesco, Guicheney Pascale, Schoenmakers Nadia, Farooqi Sadaf, Lyons Greta, Hatfield Dolph, Chatterjee Krishna
Abstract excerpt
Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclear genome-encoded, transfer RNA (tRNA[Ser]Sec). Here, we have identified a human tRNA[Ser]Sec mutation in a proband who presented with a variety of symptoms, including abdominal pain,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.