| 1 | BCKDK
|
| A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.
|
| Zigler JS Jr, Hodgkinson CA, Wright M, Klise A, Sundin O, Broman KW, Hejtmancik F, Huang H, Patek B, Sergeev Y, Hose S, Brayton C, Xaiodong J, Vasquez D, Maragakis N, Mori S, Goldman D, Hoke A, Sinha D.
|
| PLoS One 11(7):e0160447. doi: 10.1371/journal.pone.0160447. eCollection 2016.
2016
|
| 2 | BCKDK, 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
|
| 3 | BCKDK, 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
|
| 4 | BCKDHA, 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
|
| 5 | BCKDK
|
| Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice.
|
| Joshi MA, Jeoung NH, Obayashi M, Hattab EM, Brocken EG, Liechty EA, Kubek MJ, Vattem KM, Wek RC, Harris RA.
|
| Biochem J 400(1):153-62.
2006
|
| 6 | BCKDK
|
| Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.
|
| Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH.
|
| J Biol Chem 277(18):15865-73. Epub 2002 Feb 11.
2002
|
| 7 | BCKDK
|
| Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases.
|
| Popov KM, Zhao Y, Shimomura Y, Kuntz MJ, Harris RA.
|
| J Biol Chem 267(19):13127-30. 1992
|