VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions

VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions

The von Hippel–Lindau (VHL) disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) forms a complex (VBC) with Elongins B-C, Cullin2, and Rbx1. Although other functions have been discovered, the most described function of pVHL is to r...

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Bibliographic Details
Main Authors: Cecilia Mathó, María Celia Fernández, Jenner Bonanata, Xian-De Liu, Ayelen Martin, Ana Vieites, Gabriela Sansó, Marta Barontini, Eric Jonasch, E. Laura Coitiño, Patricia Alejandra Pennisi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Endocrinology
Subjects:
VHL
von Hippel–Lindau
novel variants
P138R
L163R
functional characterization
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.854365/full

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