Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism. We investigated the gamma aminobutyric acid (GABA) metabolism and energy production pathways in human PDE-ALDH7A1 and...

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Detalles Bibliográficos
Autores principales: Minenkova, Anastasia, Jansen, Erwin E. W., Cameron, Jessie, Barto, Rob, Hurd, Thomas, MacNeil, Lauren, Salomons, Gajja S., Mercimek-Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425566/
https://www.ncbi.nlm.nih.gov/pubmed/34495967
http://dx.doi.org/10.1371/journal.pone.0257073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425566/
https://www.ncbi.nlm.nih.gov/pubmed/34495967
http://dx.doi.org/10.1371/journal.pone.0257073

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