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Article

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

The Journal of biological chemistry - 17 Apr 2009

Knauth Katja, Cartwright Edward, Freund Stefan, Bycroft Mark, Buchberger Alexander

Abstract excerpt

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 factor subunits, HIF-1/2alpha. Mutational inactivation of pVHL causes the hereditary von Hippel-Lindau tumor syndrome, which predisposes affected individuals to hemangioblastomas, renal cell carcinomas, and pheochromocytomas. Whereas the...

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Identifiers

PMID: 19228690
DOI: 10.1074/jbc.M809056200
PMCID: PMC2667738

Genes

VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.PMID 19228690Read ↗

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.Semantic proximity Read ↗

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.Semantic proximity Read ↗

Recent advances in etiology and treatment of von Hippel-Lindau Disease (VHLD).Semantic proximity Read ↗

VHL type 2B mutations retain VBC complex form and function.Semantic proximity Read ↗

The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteinsSemantic proximity Read ↗

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.Semantic proximity Read ↗

von Hippel-Lindau DiseaseSemantic proximity Read ↗

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.Semantic proximity Read ↗

The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity.Semantic proximity Read ↗

The VHL tumor suppressor: master regulator of HIF.Semantic proximity Read ↗

Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.Semantic proximity Read ↗

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