Von Hippel–Lindau disease: insights into oxygen sensing, protein degradation, and cancer

WG Kaelin - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
Germline loss-of-function mutations of the VHL tumor suppressor gene cause von Hippel–
Lindau disease, which is associated with an increased risk of hemangioblastomas, clear cell …

The HIF and other quandaries in VHL disease

D Tarade, M Ohh - Oncogene, 2018 - nature.com
Mutations in VHL underlie von Hippel–Lindau (VHL) disease, a hereditary cancer syndrome
with several subtypes depending on the risk of developing certain combination of classic …

The von Hippel–Lindau tumor suppressor protein: new insights into oxygen sensing and cancer

W Kim, WG Kaelin Jr - Current opinion in genetics & development, 2003 - Elsevier
The von Hippel–Lindau tumor suppressor protein (pVHL) is the substrate-recognition
module of an E3 ubiquitin ligase that targets the alpha subunits of hypoxia-inducible factor …

[HTML][HTML] The VHL tumor suppressor gene: insights into oxygen sensing and cancer

WG Kaelin Jr - Transactions of the American Clinical and …, 2017 - ncbi.nlm.nih.gov
Mammalian cells sense changes in oxygen and transduce that information into adaptive
changes in gene expression using a conserved pathway that converges on the …

The von Hippel–Lindau tumor suppressor, hypoxia-inducible factor-1 (HIF-1) degradation, and cancer pathogenesis

CW Pugh, PJ Ratcliffe - Seminars in cancer biology, 2003 - Elsevier
Recently, work on the mechanism of action of the von Hippel–Lindau tumour suppressor
protein (pVHL) and studies on hypoxic gene regulation have converged, providing insights …

The von Hippel-Lindau tumor suppressor protein and clear cell renal carcinoma

WG Kaelin Jr - Clinical Cancer Research, 2007 - AACR
Germ line VHL tumor suppressor gene loss-of-function mutations cause von Hippel-Lindau
disease, which is associated with an increased risk of central nervous system …

Inhibition of HIF2α is sufficient to suppress pVHL-defective tumor growth

K Kondo, WY Kim, M Lechpammer, WG Kaelin Jr - PLoS biology, 2003 - journals.plos.org
Biallelic inactivation of the von Hippel–Lindau tumor suppressor gene (VHL) is linked to the
development of hereditary (VHL-associated) and sporadic clear-cell renal carcinomas as …

Role of VHL Gene Mutation in Human Cancer

WY Kim, WG Kaelin - Journal of clinical oncology, 2004 - ascopubs.org
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene causes the
von Hippel-Lindau hereditary cancer syndrome, and somatic mutations of this gene have …

The VHL tumor suppressor and HIF: insights from genetic studies in mice

PP Kapitsinou, VH Haase - Cell Death & Differentiation, 2008 - nature.com
Abstract The von Hippel–Lindau tumor suppressor gene product, pVHL, functions as the
substrate recognition component of an E3-ubiquitin ligase, which targets the oxygen …

Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations

L Li, L Zhang, X Zhang, Q Yan… - … and cellular biology, 2007 - Am Soc Microbiol
Clear cell carcinoma of the kidney is a major cause of mortality in patients with von Hippel-
Lindau (VHL) disease, which is caused by germ line mutations that inactivate the VHL tumor …