Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype

Human NADPH-cytochrome P450 oxidoreductase (POR) gene mutations are associated with severe skeletal deformities and disordered steroidogenesis. The human POR mutation A287P presents with disordered sexual development and skeletal malformations. Difficult recombinant expression and purification of th...

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Veröffentlicht in:J Biol Chem
Hauptverfasser: McCammon, Karen M., Panda, Satya P., Xia, Chuanwu, Kim, Jung-Ja P., Moutinho, Daniela, Kranendonk, Michel, Auchus, Richard J., Lafer, Eileen M., Ghosh, Debashis, Martasek, Pavel, Kar, Rekha, Masters, Bettie Sue, Roman, Linda J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2016
Schlagworte:
Molecular Bases of Disease
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5034044/
https://ncbi.nlm.nih.gov/pubmed/27496950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.716019
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