Transcription programs and cell division

Abstract

Written by Orli Bahcall, Pamela Feliciano, Emily Niemitz & Kyle Vogan consanguineous family with two affected siblings harboring a homozygous missense mutation in BCKDK. The kinase encoded by BCKDK acts as a negative regulator of the branched-chain ketoacid dehydrogenase complex, which catalyzes the degradation of branched-chain amino acids. Consistent with… (More)
DOI: 10.1038/ng.2431

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