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Dissertations / Theses on the topic 'FBXO24'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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1

Medeiros, Ana Carla. "Caracterização parcial do complexo SCF1 contendo a proteína FBXO25 fosforilada." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/17/17131/tde-09092015-110529/.

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A FBXO25 é parte de uma E3 ligase do tipo RING, (Really Interesting New Gene), oligomérica do tipo SCF, responsável pelo reconhecimento específico do substrato a ser degradado via Sistema Ubiquitina-Proteassoma (SUP). O SUP é o principal mecanismo proteolítico intracelular, responsável pela degradação de 80-90% das proteínas citosólicas e nucleares. A FBXO25 é capaz de formar um complexo SCF1 ativo (formado pela interação das proteínas Skp1, Cul1, Roc1 e uma proteína do tipo F-box), capaz de ubiquitinar seus substratos. Essa proteína se acumula no núcleo celular formando uma nova estrutura sub

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2

Vieira, Nichelle Antunes. "Caracterização de células humanas Hap1 nocaute para FBXO25: via de sinalização da ERK quinase e proliferação celular." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/17/17131/tde-25042018-143544/.

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A proteína FBXO25 é uma E3-ligase do tipo SCF, responsável pela seletividade da ligação da Ub à proteína substrato e pelo direcionamento da proteína marcada para o barril proteassomal 26s. Sabe-se que FBXO25 é capaz de interagir e ubiquitinar a proteína Elk-1 em células HEK293T e, assim, inibir a expressão de genes importantes na regulação da proliferação celular, como C-FOS e EGR-1, após estímulo com o mitógeno PMA. Aqui mostramos que FBXO25 atua em um outro ponto da via das MAPKs, modulando os níveis de fosforilação de ERK1/2. Por meio da utilização de células nocaute para FBXO25 (FBXO25KO)

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3

Tsui, Hoyee. "The role of p21-activated kinase 1 (Pak1) in the heart." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/the-role-of-p21activated-kinase-1-pak1-in-the-heart(8c34d7bc-a2aa-4ae0-a197-91ed905212f5).html.

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Heart failure is associated with a high mortality rate and is one of the most prevalent diseases worldwide whereby susceptibility increases with age. The development of heart failure occurs over an extensive period of time in which arrhythmias and hypertrophy are both very prevalent manifestations throughout this progression. Arrhythmias are defined as an irregular rhythm originating from intracellular calcium dysregulation, which can be fatal. Cardiac hypertrophy is a compensatory condition induced by increased workload involving augmented cardiomyocyte growth accompanied by myocardial remode

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4

Stavropoulou, Alexandra Vassiliki. "Histone deacetylase (HDAC) inhibitors and FBXL20 in breast cancer." Thesis, Imperial College London, 2008. http://hdl.handle.net/10044/1/7389.

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Research performed over the last decade has highlighted the role of HDAC inhibitors (HDACis) as modulators of transcriptional activity and as a potential new class of therapeutic agents against many types of malignacies including breast cancer. These drugs inhibit histone deacetylases, leading to derepression of transcription of various genes that are important for cell cycle arrest and cell death. Trichostatin A (TSA) is one of the best established HDAC inhibitors and has been shown to exhibit potent differentiating and anti-proliferative properties. My data demonstrated that treatment of the

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5

Patel, Shachi. "Fbxo7 in T cell development and oncogenesis." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709293.

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6

Rowicka, Paulina Aiko. "The role of FBXO7 in mitochondrial biology and Parkinson's disease." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/282989.

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Parkinson's disease is a progressive neurodegenerative disorder of the central nervous system, manifesting with both motor and non-motor symptoms. Autosomal recessive mutations in the FBXO7 gene have been identified to cause a rapidly progressing early-onset form of PD. Canonically, FBXO7 functions as a substrate-recruiting subunit of the SCF-type E3 ubiquitin ligase. However, it also has a variety of other atypical functions, such as cell cycle regulation, proteasome regulation, and mitophagy. The overall aim of this research was to characterise the functional role of FBXO7 in various in vitr

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7

Sammler, Esther. "Signalling pathway of FBXO7 and its role in hereditary Parkinsonism." Thesis, University of Dundee, 2014. https://discovery.dundee.ac.uk/en/studentTheses/2a2889b3-20b5-4353-af11-72782c07ef3a.

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Parkinson’s Disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s and old age is the strongest risk factor for developing PD. PD has traditionally been seen as a motor disorder, but its non-motor symptoms such as dysautonomia, sensory dysfunction, sleeping problems and neuropsychiatric features equally add to the disease burden. There is no cure for PD and this is probably a reflection of our poor understanding of the disease pathogenesis. One way of tackling this is to focus on the small, but significant number of PD patients with a family history compatible with

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8

Liu, Jia, and 劉佳. "Role of FBXO31 in regulating MAPK-mediated genotoxic stress response and cancer cell survival." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/205657.

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Esophageal cancer is the third most common digestive tract malignancy. Along with surgery, genotoxic drugs (e.g. cisplatin) and radiotherapy are the mainstays of treatment for this disease. Environmental factors and environmental stress-induced responses contribute to esophageal tumorigenesis and chemoresistance. Studying key molecules in stress-induced signal pathway can help unravel the underlying mechanisms and discover rational therapeutic targets. Cyclin D1 is DNA damage response protein. Genotoxic stress induces rapid cyclin D1 degradation and the molecules mediating this response are

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9

Kleppa, Marc-Jens [Verfasser]. "Charakterisierung des Gens Fbxl22 und seiner Funktion während der Muskelentwicklung der Maus / Marc-Jens Kleppa." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2011. http://d-nb.info/1019235071/34.

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10

Shang, Jinsai. "STRUCTURAL AND FUNCTIONAL STUDIES OF F-BOX-ONLY PROTEIN FBXO7 AND ITS INTERACTIONS WITH PROTEASOME INHIBITOR PI31." OpenSIUC, 2015. https://opensiuc.lib.siu.edu/dissertations/1053.

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F-box only protein 7 (Fbxo7), a member of the F-box-only subfamily of FBPs, is a biologically and pathophysiologically important human protein that assumes many critical functions. The different functions of Fbxo7 depend on the formation of various multi-protein complexes. Possible interplay between different Fbxo7 functions further complicate the protein-protein interaction networks involved in Fbxo7 biology. Although significant progresses have been made to understand the functions, regulation, specificity, and protein interaction network of Fbxo7, a myriad of questions remain to be answere

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11

Horn, Moritz [Verfasser], Adam [Akademischer Betreuer] Antebi, Thorsten [Akademischer Betreuer] Hoppe, and Günter [Akademischer Betreuer] Schwarz. "Coordination of Developmental Timing and Maturation by the F-box Protein DRE-1/FBXO11 / Moritz Horn. Gutachter: Adam Antebi ; Thorsten Hoppe ; Günter Schwarz." Köln : Universitäts- und Stadtbibliothek Köln, 2014. http://d-nb.info/1055038620/34.

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12

Mukherjee, Chaitali [Verfasser], Judith [Akademischer Betreuer] Stegmüller, and Mikael [Akademischer Betreuer] Simons. "Functional analysis of the CNS-specific F-box protein FBXO41 in cerebellar development / Chaitali Mukherjee. Betreuer: Judith Stegmüller. Gutachter: Judith Stegmüller ; Mikael Simons." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2015. http://d-nb.info/1077913818/34.

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13

Simon-Kayser, Barbara. "Identification d'un gène humain localisé en 17q12, codant pour un membre de la famille F-box (Fbxo47) : étude des caractéristiques de la protéine." Nantes, 2006. http://archive.bu.univ-nantes.fr/pollux/show.action?id=9ed39bb9-3443-422a-a221-ce1ddba667f4.

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Les altérations chromosomiques dans la région 17q surviennent dans de nombreux cancers, incluant les tumeurs papillaires rénales (pRCC), suggérant la présence d'un gène impliqué dans l'oncogenèse. Une analyse de perte d'hétérozygotie sur 15 cas de pRCC nous a permis de définir une zone minimale de délétion autour du marqueur D17S250 (17q12), dans laquelle nous avons isolé un nouveau gène, FBXO47. Ce transcrit apparaît fortement exprimé dans le testicule. La recherche de domaines protéiques caractéristiques a permis de montrer la présence: d'un domaine F-box, dont nous avons démontré la fonctio

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14

Simon-Kayser, Barbara Bezieau Stéphane. "Identification d'un gène humain localisé en 17q12, codant pour un membre de la famille F-box (Fbxo47) étude des caractéristiques de la protéine /." [S.l.] : [s.n.], 2006. http://theses.univ-nantes.fr/thesemed/DOCsimon.pdf.

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15

Vadhvani, Mayur [Verfasser], Judith [Akademischer Betreuer] Stegmüller, Klaus-Armin [Akademischer Betreuer] Nave, and Till [Akademischer Betreuer] Marquardt. "The role of E3 ubiquitin ligase FBXO31-SCF in neuronal morphogenesis / Mayur Vadhvani. Gutachter: Judith Stegmüller ; Klaus-Armin Nave ; Till Marquardt. Betreuer: Judith Stegmüller." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2013. http://d-nb.info/1044047453/34.

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16

Slimani, Samira. "Rôle de la protéine FBXW4 dans le complexe SCF et dans le développement du split hand/split foot malformation de type 3 (SHFM3)." Master's thesis, Université Laval, 2020. http://hdl.handle.net/20.500.11794/66675.

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La dégradation des protéines, appelée protéolyse, est un mécanisme essentiel pour le fonctionnement et la survie cellulaire. Elle se fait en grande partie grâce à l’ubiquitination des protéines qui permet au protéasome de les reconnaître et de les cliver. Dans le cadre de ce projet, et ce, à partir de deux cas cliniques, j’ai étudié le rôle la protéine F-box/WD repeat-containing protein 4 (FBXW4) dans ce processus de dégradation. Les patients étaient tous deux atteints d’un syndrome polymalformatif caractérisé par une ectrodactylie appelé split hand/split foot malformation de type 3 (SHFM3) et

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17

Schwarz, Tobias. "Charakterisierung von humanem PI31 und neuen alternativen Spleißvarianten des PI31 Gens PSMF1." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2009. http://dx.doi.org/10.18452/15919.

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Das Ubiquitin-Proteasom-System eukaryotischer Zellen spielt eine zentrale Rolle beim Abbau von fehlgefalteten und nicht mehr benötigten Proteinen. Damit erfüllt es regulatorische Funktionen bei zellulären Prozessen wie z.B. dem Zellzyklus und der Transkription. Das Protein Proteasominhibitor 31 (PI31) wurde als Inhibitor des Proteasoms in vitro charakterisiert. Des weiteren wurde gezeigt, daß überexprimiertes PI31 im murinen System ein Modulator der Assemblierung des Immunoproteasoms (i20S) ist. Über die Funktion und Regulation von PI31 im humanen System war bisher nichts bekannt und wurde des

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18

Dontcheva, Guergana Ivanova [Verfasser], Judith [Akademischer Betreuer] Stegmüller, Nils [Gutachter] Brose, Anastassia [Gutachter] Stoykova, and Tiago Fleming [Gutachter] Outeiro. "Functional analysis of the parkinsonism-associated protein FBXO7 (PARK15) in neurons / Guergana Ivanova Dontcheva ; Gutachter: Nils Brose, Anastassia Stoykova, Tiago Fleming Outeiro ; Betreuer: Judith Stegmüller." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2017. http://d-nb.info/1139491571/34.

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19

Joseph, Sabitha Lis [Verfasser], Judith [Akademischer Betreuer] Stegmüller, Judith [Gutachter] Stegmüller, and Klaus-Armin [Gutachter] Nave. "A novel role for the E3 ubiquitin ligase FBXO7 in axonb-myelin interaction / Sabitha Lis Joseph ; Gutachter: Judith Stegmüller, Klaus-Armin Nave ; Betreuer: Judith Stegmüller." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2018. http://d-nb.info/1160753474/34.

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20

Brockelt, David [Verfasser], Judith [Akademischer Betreuer] [Gutachter] Stegmüller, and Tiago Fleming [Gutachter] Outeiro. "The role of the E3 ubiquitin ligase FBXO7-SCF in early-onset Parkinson's disease / David Brockelt. Betreuer: Judith Stegmüller. Gutachter: Judith Stegmüller ; Tiago Fleming Outeiro." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2016. http://d-nb.info/1112736522/34.

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21

Holubowska, Anna [Verfasser], Judith [Akademischer Betreuer] Stegmüller, Hannelore [Akademischer Betreuer] Ehrenreich, et al. "Characterization of the CNS-specific F-box protein FBXO41 in cerebellar development / Anna Holubowska. Gutachter: Judith Stegmüller ; Hannelore Ehrenreich ; André Fischer ; Anastassia Stoykova ; Andreas Wodarz ; Ralf Heinrich. Betreuer: Judith Stegmüller." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2014. http://d-nb.info/1051740568/34.

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22

Baumann, Ursula [Verfasser], Florian [Akademischer Betreuer] [Gutachter] Bassermann, Bernhard [Gutachter] Küster, and Claus [Gutachter] Belka. "The role of the ubiquitin-proteasome system in the pathology and treatment of B-cell lymphoma : Characterization of the PRKCD-FBXO25-HAX1 axis in lymphomagenesis and treatment resistance of B-cell lymphoma / Ursula Baumann ; Gutachter: Bernhard Küster, Claus Belka, Florian Bassermann ; Betreuer: Florian Bassermann." München : Universitätsbibliothek der TU München, 2017. http://d-nb.info/1137010452/34.

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23

Kirk, Rebecca Jane. "Structural and functional analysis of the proteasome inhibitor PI31 and its interaction with the F-box protein Fbxo 7." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1445730/.

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This thesis describes the structural and functional analysis of two related proteins, PI31 and Fbxo7, both of which act within the ubiquitin-proteasome system. This system is involved in a wide variety of cellular processes. Proteins modified with ubiquitin are often targeted for degradation by the proteasome, an ATP-dependent multi-subunit complex. Specificity for ubiquitin transfer is controlled by the E3 ubiquitin ligases. The multi-subunit SCF E3 ubiquitin ligases use their F-box domain protein to engage substrates. Analysis of possible binding partners of the novel F-box protein Fbxo7 usi

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Vingill, Siv [Verfasser], Judith [Akademischer Betreuer] Stegmüller, Thomas A. [Gutachter] Bayer, et al. "Characterization of FBXO7 (PARK15) knockout mice modeling Parkinsonian-Pyramidal Syndrome / Siv Vingill ; Gutachter: Thomas A. Bayer, Tiago Fleming Outeiro, Nils Brose, Ralf Heinrich, Thomas Dresbach ; Betreuer: Judith Stegmüller." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2017. http://d-nb.info/1130400816/34.

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Targosz, Bianca-Sabrina [Verfasser], Florian C. [Akademischer Betreuer] Bassermann, and Claus [Akademischer Betreuer] Schwechheimer. "The role of the SCF-Fbxo9 in the pathogenesis and therapy of Multiple Myeloma / Bianca-Sabrina Yvonne Targosz. Gutachter: Claus Schwechheimer ; Florian C. Bassermann. Betreuer: Florian C. Bassermann." München : Universitätsbibliothek der TU München, 2013. http://d-nb.info/1036495167/34.

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Viñas, Castells Rosa. "Ubiquitin ligases involved in the regulation of Snail1." Doctoral thesis, Universitat Pompeu Fabra, 2013. http://hdl.handle.net/10803/145483.

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Epithelial to mesenchymal transition (EMT) is a process by which epithelial cells acquire a mesenchymal phenotype. It is characterized by the down-regulation of the adherens junction protein E-cadherin, and it is important during embryonic development. Snail1 expression is sufficient to trigger EMT in cultured cells and is found up-regulated in some cancers. Snail1 is stabilized both at mRNA and protein levels and in this project we analyzed the action of ubiquitin ligases affecting protein half-life. Apart from the already described β-Trcp1, that degrades Snail1 in a GSK-3β phosphorylation-de

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27

Olaleye, Onireti Jacob. "Novel Roles of Cullin-RING Ligases in Cell Signalling and Implications in Health and Disease." Doctoral thesis, 2022. http://hdl.handle.net/11562/1070147.

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Cullin-RING ligases (CRLs) play fundamental functions in key physiological and pathological processes. To identify novel roles of CRLs in cell signalling and their implication in health and diseases, we performed two separate studies: In study 1, we analysed genomic databases to identify CRLs that are hypermutated in cancer. We found that the CRL substrate receptors FBXO24 and DCAF12L2 are hypermutated at critical domains that are necessary for the proper structure/function of the CRL1FBXO24 and CRL4DCAF12L2 complexes, respectively. We showed that the FBXO24(T65P) mutation within the F-box dom

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陳映如. "A Study on the Institution of Working Time in Taiwan: Focusing on Working besides Regular Working Hours." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/fbxe2q.

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碩士<br>國立政治大學<br>勞工研究所<br>107<br>As we view the revisal of the Labor Standard Act for the past few years, surely the issue of cutting down working time has become something that draws quite a few attentions. Even so, as confronting the actual need when it comes to operating a company, some exceptions are made besides the principles of regular working hours.However, while the Act has been revised, it seems like nothing has changed, people still work besides regular working hours, people still dispute about how to have their regular leave, and people still work overtime. In this article, the conc

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Chen, Wan-Rou, and 陳婉柔. "Genetic Study of Two Candidate Genes, FBXO25 and ARHGEF10, in Autism Spectrum Disorders." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/26818068096871531634.

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碩士<br>慈濟大學<br>分子生物暨人類遺傳學系碩士班<br>100<br>Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopment disorders, it can be diagnosed before three years of age, the syndromes of ASD are defined by the damage of social interaction, abnormal development of speech and language, and highly restricted interests and stereotyped behavior. Previous studies showed that ASD are highly heritable, however, the disease causing genes are poorly known. We recently reported that using Array Comparative Genomic Hybridization analysis (array CGH), a boy with ASD who had a terminal deletion at the sh

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Vadhvani, Mayur. "The role of E3 ubiquitin ligase FBXO31-SCF in neuronal morphogenesis." Doctoral thesis, 2012. http://hdl.handle.net/11858/00-1735-0000-000D-F0CA-7.

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Holubowska, Anna. "Characterization of the CNS-specific F-box protein FBXO41 in cerebellar development." Doctoral thesis, 2013. http://hdl.handle.net/11858/00-1735-0000-0022-5ECB-7.

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Huang, Ting-Wei, and 黃廷瑋. "Interaction of FBXL14 and a Schizophrenia Associated Gene DISC1 in Mouse Embryonic Brain." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/95791312336805945594.

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碩士<br>國立臺灣大學<br>腦與心智科學研究所<br>103<br>Disrupted in Schizophrenia 1 (DISC1), first identified in human (Homo sapiens), is a disease-related gene that is associated with schizophrenia and other psychiatric disorders including bipolar disorder and autism spectrum disorders (Soares et al, 2011). DISC1 protein is known to be involved in neurodevelopment processes such as neuronal migration (Ishizuka et al, 2011) and neuronal progenitor proliferation (Singh et al, 2010). F-box and leucine-rich repeat protein 14 (FBXL14) is a subunit of E3 ubiquitin ligase complex involved in proteasome-mediated protei

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Mukherjee, Chaitali. "Functional analysis of the CNS-specific F-box protein FBXO41 in cerebellar development." Doctoral thesis, 2015. http://hdl.handle.net/11858/00-1735-0000-0023-9648-1.

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Vingill, Siv. "Characterization of FBXO7 (PARK15) knockout mice modeling Parkinsonian-Pyramidal Syndrome." Doctoral thesis, 2016. http://hdl.handle.net/11858/00-1735-0000-0023-3E1B-6.

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Dontcheva, Guergana Ivanova. "Functional analysis of the parkinsonism-associated protein FBXO7 (PARK15) in neurons." Doctoral thesis, 2017. http://hdl.handle.net/11858/00-1735-0000-0023-3EF5-7.

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Chen, Ying-Lin, and 陳映伶. "Investigating up-regulating FBXO7 expression as a preventive strategy for Parkinson's disease." Thesis, 2014. http://ndltd.ncl.edu.tw/handle/92758321094666163111.

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碩士<br>國立臺灣師範大學<br>生命科學研究所<br>102<br>Parkinson’s disease (PD), the second most common neurodegenerative disorder, is pathologically characterized by loss of dopaminergic neurons in the substantia nigra of the midbrain. Mutations in the F-box only protein 7 gene (FBXO7), the substrate-specifying subunit of Skp1-Cullin-F-Box (SCF) E3 ubiquitin ligase complex, cause PD-15 (PARK15). Previously we identified an amino acid changed variant Y52C in association with decreased risk of developing PD. Upon expression in cells, Y52C variant displayed significantly reduced rate of decay in cycloheximide chas

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Joseph, Sabitha Lis. "A novel role for the E3 ubiquitin ligase FBXO7 in axon-myelin interaction." Doctoral thesis, 2017. http://hdl.handle.net/11858/00-1735-0000-002E-E414-8.

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Chou, Jian-Liang, та 周建良. "The Role of Aberrant Epigenetic Alteration of the TGF-β Targets FBXO32 and ABCA1 In Ovarian Cancer". Thesis, 2013. http://ndltd.ncl.edu.tw/handle/19886517080024773013.

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博士<br>國立中正大學<br>分子生物研究所<br>101<br>The Dysregulation of TGF-β signaling plays a key role in ovarian carcinogenesis and maintaining cancer stem cell properties. In this study, we utilized previous ChIP-chip, mDIP-chip, and expression array data to identify TGF-β/SMAD4 relative genes: FBXO32 and ABCA1. In the first part of study, we found that expression of FBXO32 was observed in normal ovarian surface epithelium but not in ovarian cancer cell lines. FBXO32 methylation was seen in ovarian cancer cell lines, and epigenetic drug treatment restored FBXO32 expression in ovarian cancer cell lines, sug

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Brockelt, David. "The role of the E3 ubiquitin ligase FBXO7-SCF in early-onset Parkinson's disease." Doctoral thesis, 2015. http://hdl.handle.net/11858/00-1735-0000-0028-881A-3.

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Hagens, Olivier [Verfasser]. "Search for genes involved in human cognition : molecular characterisation of two novel genes, FBXO25 and KIAA1202, disrupted by a translocation in a mentally retarded patient / vorgelegt Olivier Hagens." 2007. http://d-nb.info/985002883/34.

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Neilsen, Paul Matthew. "Functional analysis of ANKRD11 and FBXO31: two candidate tumour suppressor genes from the 16q24.3 breast cancer loss of heterozygosity region." Thesis, 2008. http://hdl.handle.net/2440/59014.

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Loss of heterozygosity (LOH) on the long arm of chromosome 16 is frequently observed during the onset of breast cancer. Our laboratory has recently identified both ANKRD11 and FBXO31 as candidate tumour suppressor genes in the chromosome band 16q24.3, which is the smallest region of overlap for breast cancer LOH. This thesis focuses on the functional analysis of these two novel genes and implicates a role for them as breast cancer tumour suppressors. ANKRD11: a novel p53 coactivator involved in the rescue of mutant p53. The ability of p53 to act as a transcription factor is critical for it

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Neilsen, Paul Matthew. "Functional analysis of ANKRD11 and FBXO31: two candidate tumour suppressor genes from the 16q24.3 breast cancer loss of heterozygosity region." 2008. http://hdl.handle.net/2440/59014.

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Loss of heterozygosity (LOH) on the long arm of chromosome 16 is frequently observed during the onset of breast cancer. Our laboratory has recently identified both ANKRD11 and FBXO31 as candidate tumour suppressor genes in the chromosome band 16q24.3, which is the smallest region of overlap for breast cancer LOH. This thesis focuses on the functional analysis of these two novel genes and implicates a role for them as breast cancer tumour suppressors. ANKRD11: a novel p53 coactivator involved in the rescue of mutant p53. The ability of p53 to act as a transcription factor is critical for its fu

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Rizk, Rana. "Analyzing KDM4A protein interaction network using proximity-dependent biotin identification assay." Thesis, 2020. http://hdl.handle.net/1866/24711.

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Cette étude a été conçue pour identifier les protéines qui interagissent potentiellement avec Déméthylase 4A spécifique de la lysine (KDM4A) dans le contexte du cancer en utilisant l’essai d'identification de la biotine dépendante de la proximité 2 (BioID2). KDM4A est une lysine déméthylase et un régulateur épigénétique qui joue un rôle dans la carcinogenèse en favorisant la prolifération. Nous avons cherché à identifier l'interactome protéique de KDM4A dans la lignée cellulaire du cancer du col de l'utérus HeLa. Ces interactions protéiques ont été caractérisées en fonction de leur dépendance

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Haydu, Julie Erika M. "The Roles of F-box and Leucine-Rich Repeat Protein 4 (FBXL4) in Mitochondrial Encephalopathy and T-cell Acute Lymphoblastic Leukemia." Thesis, 2015. https://doi.org/10.7916/D8028Q64.

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The F-box and leucine-rich repeat factor (FBXL4) locus is altered in two distinct diseases, a pediatric mitochondrial encephalopathy associated with early death, and the highly aggressive hematological malignancy T-cell Acute Lymphoblastic Leukemia (T-ALL). As an F-box protein, FBXL4 is predicted to target specific protein substrates for proteasomal degradation. Notably, not much is known about the roles of FBXL4 in homeostasis or disease, and thus I generated conditional Fbxl4 knockout mice to characterize the contributions of Fbxl4 to mitochondrial encephalopathy and to T-ALL. Homozygous mut

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Magalhães, Ana Luísa Dos Santos. "Identificação de Novos Genes de Susceptibilidade para o Cancro do Cólon e Recto do Tipo X." Master's thesis, 2017. http://hdl.handle.net/10362/63366.

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O cancro do cólon e recto familiar do tipo X (FCCTX) descreve as famílias HNPCC que preenchem os CA mas não apresentam mutações germinais nos genes MMR e cujos tumores são microssatélites estáveis. Não são ainda conhecidas causas moleculares que expliquem a susceptibilidade para o desenvolvimento de cancro do cólon na grande maioria das famílias FCCTX. Assim, o presente projecto pretendeu identificar genes candidatos/variantes específicas em genes candidatos que possam estar envolvidos na susceptibilidade para o cancro do cólon e recto familiar do tipo X (FCCTX). Foram incluídas neste es

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Rostosky, Christine Melina. "Onset and Progression of Neurodegeneration in Mouse Models for Defective Endocytosis." Doctoral thesis, 2018. http://hdl.handle.net/21.11130/00-1735-0000-0005-1286-F.

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