Abstract
The von Hippel-Lindau hereditary cancer syndrome was first described about 100 years ago. The unusual clinical features of this disorder predicted a role for the von Hippel-Lindau gene (VHL) in the oxygen-sensing pathway. Indeed, recent studies of this gene have helped to decipher how cells sense changes in oxygen availability, and have revealed a previously unappreciated role of prolyl hydroxylation in intracellular signalling. These studies, in turn, are laying the foundation for the treatment of a diverse set of disorders, including cancer, myocardial infarction and stroke.
MeSH terms
-
Animals
-
Gene Expression Regulation, Neoplastic
-
Genetic Predisposition to Disease*
-
Humans
-
Ligases / genetics*
-
Neoplasms / complications*
-
Neoplasms / genetics*
-
Neoplasms / metabolism
-
Neoplasms / pathology
-
Tumor Suppressor Proteins*
-
Ubiquitin-Protein Ligases*
-
Von Hippel-Lindau Tumor Suppressor Protein
-
von Hippel-Lindau Disease / complications*
-
von Hippel-Lindau Disease / genetics*
-
von Hippel-Lindau Disease / metabolism
-
von Hippel-Lindau Disease / pathology
Substances
-
Tumor Suppressor Proteins
-
Ubiquitin-Protein Ligases
-
Von Hippel-Lindau Tumor Suppressor Protein
-
Ligases
-
VHL protein, human