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

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....

Source: Proceedings of the National Academy of Sciences - February 25, 2022 Category: Science Authors: Wanhao Chi, Atulya S. R. Iyengar, Wenqin Fu, Wei Liu, Abigayle E. Berg, Chun-Fang Wu, Xiaoxi Zhuang Tags: Genetics Biological Sciences Source Type: research