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

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

Genes（2022）

Cited 7|Views12

Key words

maple syrup urine disease,leucinosis,branched-chain amino acid metabolism,branched-chain ketoacid dehydrogenase kinase,newborn screening,genetic analysis,molecular dynamics simulations,whole-exome sequencing

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