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Publication Type : Journal Article
Thematic Areas : Medical Sciences, Nanosciences and Molecular Medicine
Publisher : Drug Metab Pers Ther
Source : Drug Metab Pers Ther
Campus : Kochi
School : Center for Nanosciences, School of Medicine
Center : Amrita Center for Nanosciences and Molecular Medicine Move, Nanosciences
Department : Biochemistry, Nanosciences and Molecular Medicine, Neurosurgery
Verified : No
Year : 2018
Abstract : Background: Central nervous system (CNS) hemangioblastoma (HB) is the most common tumor in the von Hippel Lindau (VHL) disorder, the hereditary tumor syndrome caused by the biallelic mutations of the VHL gene. The disrupted VHL and Elongin protein interaction on hypoxia-inducible factor-1α (HIF-1α) induces a set of hypoxia-inducible genes, resulting in an unchecked endothelial cell proliferation that then leads to hemangioblastoma formation. However, recent studies have shown that disruptive germline mutations of VHL need not result in hemangioblastoma, though it can cause other manifestations of the VHL syndrome. Similarly, sporadic hemangioblastoma can occur rarely without a somatic biallelic VHL mutation. The VHL protein was earlier found to be associated with the deposition of matrix fibronectin (FN) protein in the renal extracellular matrix.
Cite this Research Publication : N. Vikkath, Ariyannur, P., Krishnakumar N. Menon, Mr, B., and Pillai, A., “Exploring the Role of Defective Fibronectin Matrix Assembly in the VHL-Associated CNS Hemangioblastoma.”, Drug Metab Pers Ther, vol. 33, no. 3, pp. 127-134, 2018.