The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions. [5]

2008年6月17日 · In general, pVHL acts as a multipurpose adaptor protein that controls a diverse array of gene expression programs, as well as extracellular matrix assembly and microtubule-based processes, by linking various target proteins to appropriate enzymatic activities.

2014年12月23日 · VHL tumour suppressor protein (pVHL) plays a key part in cellular oxygen sensing by targeting hypoxia-inducible factors for ubiquitylation and proteasomal degradation.

Patients with germ line mutations in the von Hippel-Lindau (VHL) tumor suppressor are affected by a rare familial tumor syndrome, which is characterized by the predisposition to develop highly vascularized tumors in multiple organs.

Functional inactivation of pVHL is causative of the von Hippel–Lindau disease, an inherited predisposition to develop different cancers. Due to its impact on human health, pVHL has been widely studied in the last few decades.

von Hippel–Lindau (VHL) disease is a rare, autosomal dominant genetic disorder characterized by the development of multiple tumors and cysts throughout the body, resulting from germline mutations or deletions in the VHL tumor suppressor gene located on chromosome three [1]. VHL affects approximately 1 in 36,000 individuals globally [2].

2008年1月25日 · Germ-line mutations in the von Hippel–Lindau tumor (VHL) suppressor can be found in patients with VHL disease, a rare familial tumor syndrome characterized by the development of highly...

2011年3月9日 · von Hippel–Lindau (VHL) disease (MIM Number 193300) is an autosomal dominantly inherited neoplastic disorder that demonstrates marked phenotypic variability and age-dependent penetrance.

In general, pVHL acts as a multipurpose adaptor protein that controls a diverse array of gene expression programs, as well as extracellular matrix assembly and microtubule-based processes, by linking various target proteins to appropriate enzymatic activities.

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