Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by reversible phosphorylation of its E1α-subunit. BCKDK...

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Detalles Bibliográficos
Autores principales: Boemer, François, Josse, Claire, Luis, Géraldine, Di Valentin, Emmanuel, Thiry, Jérôme, Cello, Christophe, Caberg, Jean-Hubert, Dadoumont, Caroline, Harvengt, Julie, Lumaka, Aimé, Bours, Vincent, Debray, François-Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878489/
https://www.ncbi.nlm.nih.gov/pubmed/35216372
http://dx.doi.org/10.3390/ijms23042253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878489/
https://www.ncbi.nlm.nih.gov/pubmed/35216372
http://dx.doi.org/10.3390/ijms23042253

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