Article
VHL type 2B mutations retain VBC complex form and function.
PloS one - 1 Jan 2008
Hacker Kathryn E, Lee Caroline Martz, Rathmell W Kimryn
Abstract excerpt
BACKGROUND: von Hippel-Lindau disease is characterized by a spectrum of hypervascular tumors, including renal cell carcinoma, hemangioblastoma, and pheochromocytoma, which occur with VHL genotype-specific differences in penetrance. VHL loss causes a failure to regulate the hypoxia inducible factors (HIF-1alpha and HIF-2alpha), resulting in accumulation of both factors to high levels. Although HIF dysregulation is...
Topics
- Basic Helix-Loop-Helix Transcription Factors
- Elongin
- Genetic Predisposition to Disease
- Humans
- Hypoxia-Inducible Factor 1, alpha Subunit
- Mutation, Missense
- Protein Binding
- Transcription Factors
- Ubiquitination
- Von Hippel-Lindau Tumor Suppressor Protein