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Showing 1 to 20 of 57 for “"VHL"”.

  1. VHL inhibitors as chemical probes of the hypoxia signalling pathway

    Frost, JuliantyUniversity of Dundee2018

    Von Hippel–Lindau (VHL) is the E3 ubiquitin ligase targeting hypoxia-inducible transcription factor-alpha (HIF α) for proteasomal degradation. The crucial function of VHL in response to hypoxia and cellular oxygen sensing are well established, owing to the use of genetic tools through knockout and …

    dundee Repository record

  2. Fragment-based approaches to probe the surface of the VHL E3 ligase

    Castro, GuilhermeUniversity of Dundee2019

    … of components of the von Hippel-Lindau (VHL) E3 ligase were investigated using small-molecules. By applying an integrated set of biophysical and structural biology techniques, the main goals of this project were to provide chemical tools and novel assays to probe interactions at known …

    dundee Repository record

  3. Découverte d'une sensibilité lysosomale chez les carcinomes rénaux déficients en VHL

    Bouhamdani, NadiaUniversité de Moncton2019

    … dans les cellules rénales déficientes en VHL afin d'identifier les voies de signalisation directement dérégulées en réponse au STF-62247, 2) investiguer les effets du STF-62247 sur le flux autophagique, 3) étudier la physiologie et la fonction des lysosomes dans les cellules …

    moncton Repository record

  4. Small-molecule approaches to interrogate the druggability of the VHL E3 Cullin RING Ubiquitin Ligase

    Soares, PedroUniversity of Dundee2018

    … via PPIs. The von Hippel-Lindau protein (VHL) forms part of an E3 ubiquitin ligase for which the main biological function is to recognize and ubiquitinate the protein hypoxia inducible factor alpha subunit (HIF-α), its specific substrate, marking it for degradation by the proteasome. The …

    dundee Repository record

  5. Morphogenesis of follicular epithelium in Drosophila melanogaster: function of von Hippel-Lindau tumour suppressor gene

    Duchi, Serena <1979>Alma Mater Studiorum - Università di Bologna2009

    … homolog of the human von Hippel-Lindau (d-VHL) during oogenesis, in order to gain insight into the role of h-VHL for the pathogenesis of VHL disease. h-VHL is implicated in a variety of processes and there is now a greater appreciation of HIF-independent h-VHL functions that are relevant to …

    bologna Repository record

  6. Cibler la vulnérabilité lysosomale dans le cancer du rein héréditaire comme nouvelle approche thérapeutique

    Girouard, ChloéUniversité de Moncton2023

    La maladie Von Hippel-Lindau (VHL) est un syndrome héréditaire causé par des mutations sur le gène VHL entraînant le développement de tumeurs dans différents organes tels que l’œil, l’oreille, les glandes surrénales, le cerveau, le pancréas et les reins. Environ 70% des patients atteints de la …

    moncton Repository record

  7. Mechanisms of Synthetic Lethality in Renal Cell Carcinoma

    Bertlin, JamesUniversity of Cambridge2023

    … inactivation of the von Hippel-Lindau (*VHL*) tumour suppressor gene, and inherited loss-of-heterozygosity of *VHL* underlies the eponymous hereditary cancer syndrome. The *VHL* protein product, pVHL, is the substrate recognition component of an E3 ubiquitin ligase complex responsible for …

    cambridge Repository record

  8. Effet d'une petite molécule sur les transporteurs d'acides aminés pour cibler les tumeurs déficientes en VHL par l'autophagie

    Nowlan, SarahUniversité de Moncton2017

    … gène de supression tumoral von Hippel-Lindau (VHL). Dans la poursuite de nouvelles thérapies ciblées, des études antérieures ont permis d'identifier une petite molécule, le STF-62247, qui est capable de cibler cette inactivation du VHL. Alors que son mécanisme d'action demeure à être …

    moncton Repository record

  9. Ageing and regeneration-associated transcriptional state transitions and tumour-stroma interaction in early renal carcinogenesis

    Hirosue, ShokoUniversity of Cambridge2023

    … carcinoma (ccRCC) is the most common subtype. VHL inactivation is the most common mutation seen in ccRCC with more than 90% of tumours had clonal disruption of the VHL pathway. Although it is the initial oncogenic insult in ccRCC, it takes decades after VHL inactivation for ccRCC to develop. To …

    cambridge Repository record

  10. Molecular mecanisms involved in the pathogenesis of head and neck paragangliomas

    Merlo, Anna2014

    … SDH. Encontramos mutaciones somáticas en el gen VHL en 2 de los 4 pHx-HNPGLs y se identificó pérdida de heterocigosidad (LOH) de VHL en uno de ellos. No se encontraron mutaciones en VHL en una serie de 29 HNPGLs esporádicos que carecían de la activación de la vía de pHx. Por lo tanto, las …

    oviedo Repository record

  11. Von Hippel-Lindau Syndrome: Characterization of a Potentially Novel VEGF-A Isoform and Elucidation of Molecular and Vascular Mechanisms of Observed Phenotypic Changes

    North, Morgan HunterVirginia Tech2020

    Von Hippel-Lindau (VHL) syndrome is an autosomal dominant predisposition to cancer in neurological tissues, the kidneys, adrenal glands, pancreas, and liver, including neurological hemangioblastoma (HB), pheochromocytoma (PCC), pancreatic neuroendocrine tumors (PNET), pancreatic and renal cysts, …

    vt Repository record

  12. Hämangioblastome des Zentralen Nervensystems und die von Hippel-Lindau Krankheit

    Gläsker, Sven

    … klassische “two hit“ <br>Inaktivierung des VHL-Gens als Dogma für die molekulare Pathogenese des <br>Hämangioblastoms. In der vorliegenden Arbeit wurden bei 42 Hämangioblastomen, <br>darunter 13 sporadische und 29 VHL-assoziierte Tumore, erstmals gleichzeitig alle momentan vermuteten …

    freiburg-diss Repository record

  13. Mechanotransduction by talin : a molecular dynamics study of force-induced recruitment of vinculin to a focal adhesion complex

    Lee, Seung Eun, Ph. D. Massachusetts Institute of TechnologyMassachusetts Institute of Technology2007

    … crystal structure of vinculin head subdomain (Vhl) bound to the talin VBS1 implies that vinculin undergoes a large conformational change upon binding to talin, but the molecular basis for this, or the precise nature of the binding pathway remain elusive. In the second part of the thesis, MD is …

    mit Repository record

  14. Mutationen der Succinyldehydrogenase Untereinheit D bei Patienten mit Phäochromozytom

    Munk, Robin

    … Gene vorkommen. Mit dem SDHD-Gen wurde neben VHL, RET und NF1 ein weiteres Kandidatengen für familiäre Phäochromozytome gefunden. Ziel der Arbeit war es, ein nicht ausgewähltes Kollektiv von Patienten mit sporadischen Phäochromoyztomen auf Mutationen im SDHD-Gen zu testen und die Vererbung und …

    freiburg-diss Repository record

  15. Die Von-Hippel-Lindau-Deletion im proximalen Tubulus schützt die Niere vor der Entwicklung der diabetischen Nephropathie im Frühstadium des Diabetes mellitus Typ 1

    Knöfler, HannahChristian-Albrechts-Universität zu Kiel

    … entwickelt. Eine Deletion des Von-Hippel-Lindau-(Vhl) Gens im proximalen Tubulus wurde mit Streptozotocin (STZ)-induziertem Diabetes mellitus Typ 1 (DMT1) kombiniert. Diabetische Mäuse entwickelten eine erhöhte glomeruläre Filtration, Proteinurie, glomeruläre Angiogenese und tubuloglomeruläre …

    cau-kiel Repository record

  16. Novel Proteolysis Targeting Chimeras for the targeted degradation of the protein kinase CK2

    Day-Riley, SophieUniversity of Cambridge2025

    … to Cereblon (CRBN) and Von Hippel–Lindau (VHL) E3-ligase ligands via a linker. The project was split into three stages: development of a synthetic route towards PROTACs; synthesis of PROTAC candidates, and evaluation of their biological activity in vitro. Four VHL-based PROTACs were …

    cambridge Repository record

  17. Modulation du métabolisme des sphingolipides avec une petite molécule, le STF-62247, dans le but de cibler les carcinomes rénaux

    Cahuzac, MaximeUniversité de Moncton,2016

    … gène supresseur de tumeurs, von Hippel-Lindau (VHL). Des études préalables ont permis d'identifier une petite molécule, le STF-62247, ayant la capacité de cibler spécifiquement les cellules déficientes en VHL. Cette sélectivité module le processus autophagique et des résultats …

    moncton Repository record

  18. Investigating the role of the UDP-galactose transporter SLC35A2 in the regulation of HIF signalling

    Greef, BasmaUniversity of Cambridge2023

    … constitutive HIF activation due to loss of VHL function. Confirming previous work from the Ashcroft group, I showed that Slc35a2 mutant (M6.19) CHO cells exhibit elevated normoxic HIF-1α protein levels and evidence of a glycosylation defect. Expanding on these findings, I found that SLC35A2 …

    cambridge Repository record

  19. Role of PBRM1 in regulation of the HIF pathway

    Shmakova, AlenaUniversity of Dundee2016

    … In normoxia HIFα is quickly degraded by a VHL-mediated mechanism whereas hypoxia stabilizes this subunit making it available to form an active complex and induce transcription of its target genes. Recently, it was shown that the SWI/SNF chromatin remodeling complex plays an important role …

    dundee Repository record

  20. Protein structure and interaction under environmental stress : from quality control recognition to evolution of collective behavior

    Brock, Kelly PaigeMassachusetts Institute of Technology2016

    … to misfolding is the human von Hippel-Lindau (VHL) tumor suppressor. When expressed in the absence of its cofactors, VHL cannot fold correctly and is quickly degraded by the cell's quality control machinery. Here, I present a biophysical characterization of a VHL mutation that confers increased …

    mit Repository record

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