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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Bibliografske podrobnosti
izdano v:J Biol Chem
Main Authors: 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
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2016
Teme:
Molecular Bases of Disease
Online dostop: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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