Evandro Ferrada, Tabea Wiedmer, Wen-An Wang, Fabian Frommelt, Barbara Steurer, Christoph Klimek, Sabrina Lindinger, Tanja Osthushenrich, Andrea Garofoli, Silvia Brocchetti, Samuel Bradberry, Jiahui Huang, Aidan MacNamara, Lia Scarabottolo, Gerhard F Ecker, Anders Malarstig, Giulio Superti-Furga
Creatine is an essential metabolite for the storage and rapid supply of energy in muscle and nerve cells. In humans, impaired metabolism, transport, and distribution of creatine throughout tissues can cause varying forms of mental disability, also known as creatine deficiency syndrome (CDS). So far, 80 mutations in the creatine transporter (SLC6A8) have been associated to CDS. To better understand the effect of human genetic variants on the physiology of SLC6A8 and their possible impact on CDS, we studied 30 missense variants including 15 variants of unknown significance, two of which are reported here for the first time...
December 7, 2023: Journal of Molecular Biology