Nervous system involvement in von Hippel–Lindau disease: pathology and mechanisms

Abstract

Patients with von Hippel–Lindau disease carry a germline mutation of the Von Hippel–Lindau (VHL) tumor-suppressor gene. We discuss the molecular consequences of loss of VHL gene function and their impact on the nervous system. Dysfunction of the VHL protein causes accumulation and activation of hypoxia inducible factor (HIF) which can be demonstrated in… (More)
DOI: 10.1007/s00401-013-1091-z

Topics

7 Figures and Tables

Cite this paper

@article{Vortmeyer2013NervousSI, title={Nervous system involvement in von Hippel–Lindau disease: pathology and mechanisms}, author={Alexander O. Vortmeyer and Eric A. Falke and Sven Gl{\"a}sker and Jie Li and Edward H. Oldfield}, journal={Acta Neuropathologica}, year={2013}, volume={125}, pages={333-350} }