Ontology highlight
ABSTRACT:
SUBMITTER: Albiero E
PROVIDER: S-EPMC3248940 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Albiero Elena E Ruggeri Marco M Fortuna Stefania S Finotto Silvia S Bernardi Martina M Madeo Domenico D Rodeghiero Francesco F
Haematologica 20110809 1
The oxygen sensing pathway modulates erythropoietin expression. In normal cells, intracellular oxygen tensions are directly sensed by prolyl hydroxylase domain (PHD)-containing proteins. PHD2 isozyme has a key role in tagging hypoxia-inducible factor (HIF)-α subunits for polyubiquitination and proteasomal degradation. Erythrocytosis-associated PHD2 mutations reduce hydroxylation of HIF-α. The investigation of 67 patients with isolated erythrocytosis, either sporadic or familial, allowed the iden ...[more]