A requirement for Gch1 and tetrahydrobiopterin in embryonic development

INTRODUCTION: GTP cyclohydrolase I (GTPCH) catalyses the first and rate-limiting reaction in the synthesis of the enzymatic cofactor, tetrahydrobiopterin (BH4). Loss of function mutations in the GCH1 gene lead to congenital neurological diseases such as DOPA-responsive dystonia and hyperphenylalanin...

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Detalles Bibliográficos
Autores principales: Douglas, Gillian, Hale, Ashley B., Crabtree, Mark J, Ryan, Brent J., Hansler, Alex, Watschinger, Katrin, Gross, Steven S, Lygate, Craig A., Alp, Nicholas J., Channon, Keith M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347993/
https://www.ncbi.nlm.nih.gov/pubmed/25557619
http://dx.doi.org/10.1016/j.ydbio.2014.12.025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347993/
https://www.ncbi.nlm.nih.gov/pubmed/25557619
http://dx.doi.org/10.1016/j.ydbio.2014.12.025

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