Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B(6)-Dependent Epilepsy

Pyridoxal 5′-phosphate (PLP), the active form of vitamin B(6), functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Darin, Niklas, Reid, Emma, Prunetti, Laurence, Samuelsson, Lena, Husain, Ralf A., Wilson, Matthew, El Yacoubi, Basma, Footitt, Emma, Chong, W.K., Wilson, Louise C., Prunty, Helen, Pope, Simon, Heales, Simon, Lascelles, Karine, Champion, Mike, Wassmer, Evangeline, Veggiotti, Pierangelo, de Crécy-Lagard, Valérie, Mills, Philippa B., Clayton, Peter T.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142116/
https://ncbi.nlm.nih.gov/pubmed/27912044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.10.011
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