Article

Pyridox(am)ine 5’-phosphate oxidase deficiency induces seizures in <i>Drosophila melanogaster</i>

2019-03-16

Abstract excerpt

Pyridox(am)ine 5’-phosphate oxidase (PNPO) is a rate-limiting enzyme in converting dietary vitamin B6 (VB6) to pyridoxal 5’-phosphate (PLP), the biologically active form of VB6, and involved in the synthesis of neuro-transmitters including GABA, dopamine, and serotonin. In humans, PNPO mutations have been increasingly identified in neonatal epileptic encephalopathy and more recently also in early-onset epilepsy. T...

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Literature Corpus work: 3e38537e-8b28-575f-96a3-29bf3dfd6d92
DOI: 10.1101/580050

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