Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

A significant share of patients with phenylalanine hydroxylase (PAH) deficiency benefits from pharmacological doses of tetrahydrobiopterin (BH(4)), the natural PAH cofactor. Phenylketonuria (PKU) is hypothesized to be a conformational disease, with loss of function due to protein destabilization, an...

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Xehetasun bibliografikoak
Egile Nagusiak: Gersting, Søren W., Kemter, Kristina F., Staudigl, Michael, Messing, Dunja D., Danecka, Marta K., Lagler, Florian B., Sommerhoff, Christian P., Roscher, Adelbert A., Muntau, Ania C.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2008
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443833/
https://ncbi.nlm.nih.gov/pubmed/18538294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.013
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