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Article

A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

Genes - 26 Jan 2022

Maguolo Alice, Rodella Giulia, Giorgetti Alejandro, Nicolodi Marion, Ribeiro Rui, Dianin Alice, Cantalupo Gaetano, Monge Irene, Carcereri Sarah, De Bernardi Margherita Lucia, Delledonne Massimo, Pasini Andrea, Campostrini Natascia, Ion Popa Florina, Piacentini Giorgio, Teofoli Francesca, Vincenzi Monica, Camilot Marta, Bordugo Andrea

Abstract excerpt

BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We identified, by whole exome-sequencing analysis, the p.His162Gln variant of the BCKDK gene in a neonate, picked up by newborn screening, with a biochemical phenotype of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35205278
DOI: 10.3390/genes13020233
PMCID: PMC8872256

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