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von Hippel-Lindau (VHL) disease is a hereditary cancer with a predilection for the central nervous system and retina. The von Hippel-Lindau tumor suppressor gene is mutated in families with von Hippel-Lindau disease and encodes a protein (VHL) of 213 amino acids with an acidic pentapeptide motif in the N-terminus. Mutations in the VHL gene result in constitutive expression of many hypoxia-induced genes, at least in part because of increases in the cellular level of hypoxia-inducible transcription factor HIF-1a. VHL protein binds to elongin B, elongin C, and Cul2 to form a stable complex that targets hypoxia inducible factors (HIFs) for degradation and transcriptional regulation. In addition, VHL protein has also been shown to interact with specific protein kinase C isoforms, histone deacetylases and HIF-1 inhibitor (HIF-1).
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WGK 1
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新产品
Linehan, W.M., et al.
Journal of the American Medical Association, 273, 564-570 (1995)
A D Singh et al.
Survey of ophthalmology, 46(2), 117-142 (2001-10-02)
In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients
F Latif et al.
Science (New York, N.Y.), 260(5112), 1317-1320 (1993-05-28)
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. A restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds. Eighteen of these rearrangements were due to deletions
E Hasanov et al.
Oncogene, 36(24), 3450-3463 (2017-01-24)
The hypoxia-regulated tumor-suppressor von Hippel-Lindau (VHL) is an E3 ligase that recognizes its substrates as part of an oxygen-dependent prolyl hydroxylase (PHD) reaction, with hypoxia-inducible factor α (HIFα) being its most notable substrate. Here we report that VHL has an
Jung Jin Kim et al.
Genes & development, 29(21), 2244-2257 (2015-11-08)
The von Hippel-Lindau tumor suppressor pVHL is an E3 ligase that targets hypoxia-inducible factors (HIFs). Mutation of VHL results in HIF up-regulation and contributes to processes related to tumor progression such as invasion, metastasis, and angiogenesis. However, very little is
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