Cardiopulmonary phenotype associated with human PHD2 mutation

@inproceedings{Talbot2017CardiopulmonaryPA,
  title={Cardiopulmonary phenotype associated with human PHD2 mutation},
  author={Nick P Talbot and Thomas G Smith and George Balanos and Keith L. Dorrington and Patrick Henry Maxwell and Peter A. Robbins},
  booktitle={Physiological reports},
  year={2017}
}
Oxygen-dependent regulation of the erythropoietin gene is mediated by the hypoxia-inducible factor (HIF) family of transcription factors. When oxygen is plentiful, HIF undergoes hydroxylation by a family of oxygen-dependent prolyl hydroxylase domain (PHD) proteins, promoting its association with the von Hippel-Lindau (VHL) ubiquitin E3 ligase and subsequent proteosomal degradation. When oxygen is scarce, the PHD enzymes are inactivated, leading to HIF accumulation and upregulation not only of… CONTINUE READING
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