We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.
- Authors
Huang, Lily J; Shen, Yu-Min; Bulut, Gamze B
- Abstract
Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo). Several lines of evidence suggest a causal role of truncated erythropoietin receptor (EpoR) in this disease. In this review, we discuss PFCP in the context of erythrocytosis and EpoR signalling. We focus on recent studies describing mechanisms underlying Epo-dependent EpoR down-regulation. One mechanism depends on internalization mediated through the p85 regulatory subunit of the Phosphoinositide 3-Kinase, and the other utilizes ubiquitin-based proteasomal degradation. Truncated PFCP EpoRs are not properly down-regulated upon stimulation, underscoring the importance of these mechanisms in the pathogenesis of PFCP.
- Publication
British journal of haematology, 2010, Vol 148, Issue 6, p844
- ISSN
1365-2141
- Publication type
Journal Article
- DOI
10.1111/j.1365-2141.2009.08069.x