Article

Diet modifies allele-specific phenotypes in <i>Drosophila</i> carrying epilepsy-associated <i>PNPO</i> variants

2021-07-20

Abstract excerpt

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 GABA and monoamines. Pathogenic variants in PNPO have been repeatedly identified in patients with neonatal epileptic encephalopathy and early-onset epilepsy. These patients often exhibit different types of seizur...

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Literature Corpus work: 7f4c53ee-d163-5c82-9247-5502ccdc1155
DOI: 10.1101/2021.07.19.452889

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