A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

The pyruvate dehydrogenase complex (PDC) is responsible for the conversion of pyruvate into acetyl-CoA, which is used for energy conversion in cells. PDC activity is regulated by phosphorylation via kinases and phosphatases (PDK/PDP). Variants in all subunits of the PDC and in PDK3 have been reporte...

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Detalles Bibliográficos
Autores principales: Vaz, Raquel, Wincent, Josephine, Elfissi, Najla, Rosengren Forsblad, Kristina, Pettersson, Maria, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Lindstrand, Anna, Ygberg, Sofia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775741/
https://www.ncbi.nlm.nih.gov/pubmed/36551928
http://dx.doi.org/10.3390/biomedicines10123171

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775741/
https://www.ncbi.nlm.nih.gov/pubmed/36551928
http://dx.doi.org/10.3390/biomedicines10123171

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