[HTML][HTML] Systemic VHL gene functions and the VHL disease

HL Bader, T Hsu - FEBS letters, 2012 - Elsevier
The von Hippel-Lindau tumor suppressor gene (VHL) is best known as an E3 ubiquitin
ligase that negatively regulates the hypoxia inducible factor (HIF). VHL mutations are the …

Molecular targets from VHL studies into the oxygen-sensing pathway

MA Maynard, M Ohh - Current Cancer Drug Targets, 2005 - ingentaconnect.com
Inheritance of a faulty von Hippel-Lindau (VHL) tumor suppressor gene is the cause of VHL
disease, a rare multisystemic autosomal dominant disorder characterized by the …

A zebrafish model for VHL and hypoxia signaling

E van Rooijen, K Santhakumar, I Logister, E Voest… - Methods in cell …, 2011 - Elsevier
Abstract The von Hippel–Lindau (VHL) tumor suppressor gene encodes an adaptor protein
that regulates an array of transcription-dependent and-independent cellular and …

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 …

In vitro and In vivo Models Analyzing von Hippel-Lindau Disease-Specific Mutations

WK Rathmell, MM Hickey, NA Bezman, CA Chmielecki… - Cancer research, 2004 - AACR
Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene cause tissue-specific
tumors, with a striking genotype-phenotype correlation. Loss of VHL expression predisposes …

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 …

VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL

K Knauth, E Cartwright, S Freund, M Bycroft… - Journal of Biological …, 2009 - ASBMB
pVHL (von Hippel-Lindau tumor suppressor protein) is the substrate recognition subunit of
the CBC VHL ubiquitin ligase complex promoting the degradation of hypoxia-inducible …

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 …

von Hippel–Lindau tumor suppressor: not only HIF's executioner

MF Czyzyk-Krzeska, J Meller - Trends in molecular medicine, 2004 - cell.com
Abstract Loss of von Hippel–Lindau (VHL) protein function results in an autosomal-dominant
cancer syndrome known as VHL disease, which manifests as angiomas of the retina …

Ubiquitin pathway in VHL cancer syndrome

M Ohh - Neoplasia, 2006 - Elsevier
The physiologic response to changes in cellular oxygen tension is ultimately governed by a
heterodimeric transcription factor called hypoxia-inducible factor (HIF), which, in adaptation …