Maintenance of cellular vitamin B(6) levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

Recently, biallelic variants in PLPBP coding for pyridoxal 5′-phosphate homeostasis protein (PLPHP) were identified as a novel cause of early-onset vitamin B(6)–dependent epilepsy. The molecular function and precise role of PLPHP in vitamin B(6) metabolism are not well understood. To address these q...

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Detalles Bibliográficos
Autores principales: Ciapaite, Jolita, van Roermund, Carlo W.T., Bosma, Marjolein, Gerrits, Johan, Houten, Sander M., IJlst, Lodewijk, Waterham, Hans R., van Karnebeek, Clara D.M., Wanders, Ronald J.A., Zwartkruis, Fried J.T., Jans, Judith J., Verhoeven-Duif, Nanda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463200/
https://www.ncbi.nlm.nih.gov/pubmed/37451483
http://dx.doi.org/10.1016/j.jbc.2023.105047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463200/
https://www.ncbi.nlm.nih.gov/pubmed/37451483
http://dx.doi.org/10.1016/j.jbc.2023.105047

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