Abstract:21Von Hippel-Lindau disease (VHL) is an autosomal dominant rare disease that causes the 22 formation of angiogenic tumors. When functional, pVHL acts as an E3 ubiquitin ligase that 23 negatively regulates hypoxia inducible factor (HIF). Genetic mutations that perturb the structure 24 of pVHL result in dysregulation of HIF, causing a wide array of tumor pathologies including 25 retinal angioma, pheochromocytoma, central nervous system hemangioblastoma, and clear cell 26 renal carcinoma. These VHL-related cancer… Show more
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