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

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....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872256/
https://www.ncbi.nlm.nih.gov/pubmed/35205278
http://dx.doi.org/10.3390/genes13020233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872256/
https://www.ncbi.nlm.nih.gov/pubmed/35205278
http://dx.doi.org/10.3390/genes13020233

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