Article
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
Nature medicine - 19 Jun 2011
Russell Ryan C, Sufan Roxana I, Zhou Bing, Heir Pardeep, Bunda Severa, Sybingco Stephanie S, Greer Samantha N, Roche Olga, Heathcote Samuel A, Chow Vinca W K, Boba Lukasz M, Richmond Terri D, Hickey Michele M, Barber Dwayne L, Cheresh David A, Simon M Celeste, Irwin Meredith S, Kim William Y, Ohh Michael
Abstract excerpt
Chuvash polycythemia is a rare congenital form of polycythemia caused by homozygous R200W and H191D mutations in the VHL (von Hippel-Lindau) gene, whose gene product is the principal negative regulator of hypoxia-inducible factor. However, the molecular mechanisms underlying some of the hallmark abnormalities of Chuvash polycythemia, such as hypersensitivity to erythropoietin, are unclear. Here we show that VHL...
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