Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations

Pyridox(am)ine 5′-phosphate oxidase (PNPO) catalyzes oxidation of pyridoxine 5′-phosphate (PNP) and pyridoxamine 5′-phosphate (PMP) to pyridoxal 5′-phosphate (PLP), the active form of vitamin B6. PNPO deficiency results in neonatal/infantile seizures and neurodevelopmental delay. To gain insight int...

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Veröffentlicht in:	Biochimica et biophysica acta. Molecular basis of disease 2020-03, Vol.1866 (3), p.165607-165607, Article 165607
Hauptverfasser:	Ciapaite, Jolita, Albersen, Monique, Savelberg, Sanne M.C., Bosma, Marjolein, Tessadori, Federico, Gerrits, Johan, Lansu, Nico, Zwakenberg, Susan, Bakkers, Jeroen P.W., Zwartkruis, Fried J.T., van Haaften, Gijs, Jans, Judith J., Verhoeven-Duif, Nanda M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Pyridoxal 5′-phosphate (PLP) Pyridoxamine 5′-phosphate oxidase (PNPO) deficiency Seizures Vitamin B6 Zebrafish
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