Article
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 2022
Chi Wanhao, Iyengar Atulya S R, Fu Wenqin, Liu Wei, Berg Abigayle E, Wu Chun-Fang, Zhuang Xiaoxi
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 gamma-aminobutyric acid (GABA) and the monoamines. Pathogenic variants in PNPO have been increasingly identified in patients with neonatal epileptic encephalopathy and early-onset epilepsy. These patients...
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