A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy

A Missense Variant in <i>PDK1</i> 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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Bibliographic Details
Main Authors: Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Biomedicines
Subjects:
pyruvate dehydrogenase kinase
epilepsy
neurodevelopmental delay
zebrafish
Online Access:https://www.mdpi.com/2227-9059/10/12/3171

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