Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata

M Ohh, CC Taber, FG Ferens, D Tarade - Elife, 2022 - elifesciences.org
von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that causes a
predisposition to renal clear-cell carcinoma, hemangioblastoma, pheochromocytoma, and …

Homo-PROTACs: bivalent small-molecule dimerizers of the VHL E3 ubiquitin ligase to induce self-degradation

C Maniaci, SJ Hughes, A Testa, W Chen… - Nature …, 2017 - nature.com
E3 ubiquitin ligases are key enzymes within the ubiquitin proteasome system which catalyze
the ubiquitination of proteins, targeting them for proteasomal degradation. E3 ligases are …

Lighting up Nobel Prize-winning studies with protein intrinsic disorder

L Piersimoni, M Abd el Malek, T Bhatia… - Cellular and Molecular …, 2022 - Springer
Intrinsically disordered proteins and regions (IDPs and IDRs) and their importance in biology
are becoming increasingly recognized in biology, biochemistry, molecular biology and …

VHL suppresses RAPTOR and inhibits mTORC1 signaling in clear cell renal cell carcinoma

A Ganner, C Gehrke, M Klein, L Thegtmeier… - Scientific reports, 2021 - nature.com
Inactivation of the tumor suppressor von Hippel–Lindau (VHL) gene is a key event in
hereditary and sporadic clear cell renal cell carcinomas (ccRCC). The mechanistic target of …

[HTML][HTML] von Hippel-Lindau syndrome

RS van Leeuwaarde, S Ahmad, TP Links, RH Giles - 2018 - europepmc.org
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain,
spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma …

The role of VHL in the development of von Hippel-Lindau disease and erythrocytosis

P Hudler, M Urbancic - Genes, 2022 - mdpi.com
Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem
neoplastic syndrome stemming from germline disease-associated variants of the VHL tumor …

Mammalian polycistronic mRNAs and disease

TA Karginov, DPH Pastor, BL Semler, CM Gomez - Trends in Genetics, 2017 - cell.com
Our understanding of gene expression has come far since the 'one-gene one-polypeptide'
hypothesis proposed by Beadle and Tatum. In this review, we address the gradual …

VHLdb: A database of von Hippel-Lindau protein interactors and mutations

F Tabaro, G Minervini, F Sundus, F Quaglia… - Scientific Reports, 2016 - nature.com
Abstract Mutations in von Hippel-Lindau tumor suppressor protein (pVHL) predispose to
develop tumors affecting specific target organs, such as the retina, epididymis, adrenal …

Two CONSTANS-LIKE genes jointly control flowering time in beet

N Dally, M Eckel, A Batschauer, N Höft, C Jung - Scientific reports, 2018 - nature.com
Breeding vegetative crops (eg beets, cabbage, forage grasses) is challenged by two
conflicting aims. For field production, flowering must be avoided while flowering and seed …

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors

G Minervini, F Quaglia, F Tabaro… - PLoS Computational …, 2019 - journals.plos.org
Familiar cancers represent a privileged point of view for studying the complex cellular events
inducing tumor transformation. Von Hippel-Lindau syndrome, a familiar predisposition to …