Molecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy Disorder

Mutations in pyridoxine 5′-phosphate oxidase are known to cause neonatal epileptic encephalopathy. This disorder has no cure or effective treatment and is often fatal. Pyridoxine 5′-phosphate oxidase catalyzes the oxidation of pyridoxine 5′-phosphate to pyridoxal 5′-phosphate, the active cofactor fo...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Musayev, Faik N., Di Salvo, Martino L., Saavedra, Mario A., Contestabile, Roberto, Ghatge, Mohini S., Haynes, Alexina, Schirch, Verne, Safo, Martin K.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Biochemistry and Molecular Biology 2009
विषय:
Protein Structure and Folding
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781495/
https://ncbi.nlm.nih.gov/pubmed/19759001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.038372
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