Citations for
1BCKDK, BCKDKD
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.
Oyarzabal A, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, García-Cazorla A, Artuch R, Ugarte M, Rodríguez-Pombo P.
Biochim Biophys Acta 1862(4):592-600. doi: 10.1016/j.bbadis.2016.01.016. Epub 2016 Jan 22. 2016
2BCKDK, BCKDKD
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.
Hum Mutat 35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. 2014
3BCKDHA, BCKDK, BCKDKD
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG.
Science 338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. 2012