Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes

Pyridox(am)ine 5(′)-phosphate oxidase (PNPO) catalyzes the rate-limiting step in the synthesis of pyridoxal 5(′)-phosphate (PLP), the active form of vitamin B6 required for the synthesis of neurotransmitters gamma-aminobutyric acid (GABA) and the monoamines. Pathogenic variants in PNPO have been inc...

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Detalles Bibliográficos
Autores principales: Chi, Wanhao, Iyengar, Atulya S. R., Fu, Wenqin, Liu, Wei, Berg, Abigayle E., Wu, Chun-Fang, Zhuang, Xiaoxi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892510/
https://www.ncbi.nlm.nih.gov/pubmed/35217610
http://dx.doi.org/10.1073/pnas.2115524119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892510/
https://www.ncbi.nlm.nih.gov/pubmed/35217610
http://dx.doi.org/10.1073/pnas.2115524119

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