Dissertations / Theses on the topic 'Prion protein gene'
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Premzl, Marko, and Premzl@anu edu au premzl@excite com Marko. "Prion Protein Gene and Its Shadow." The Australian National University. The John Curtin School of Medical Research, 2004. http://thesis.anu.edu.au./public/adt-ANU20050328.164529.
Full textMead, Simon Harvey. "Molecular genetic analysis of the prion protein gene locus in human prion disease." Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.417947.
Full textMoore, Richard C. "Gene targeting studies at the mouse prion protein locus." Thesis, University of Edinburgh, 1997. http://hdl.handle.net/1842/11184.
Full textSoldevila, Trepat Marta. "Genetic variation in humans and chimpanzees in the prion protein gene." Doctoral thesis, Universitat Pompeu Fabra, 2005. http://hdl.handle.net/10803/7189.
Full textIn the prion gene or PRNP, we have observed that the particular pattern of variation that we have found in this gene based on sequencing data in humans is due to positive selection, and that the method and the approach used to detect this selection critical. Ascertainment bias can be introduced by using SNP data and applying neutrality tests based on sequence diversity, therefore leading to anomalous conclusions being drawn. Moreover, we have seen that polymorphisms in codon 129 and 219 have big differences in frequency in different human populations and we have also seen that these positions are fixed in chimpanzees. The normal variation that we found in controls have been then compared with patients for the same region. The resequencing of PRNP in a very large sample of humans and chimpanzees has provided a great deal of information on this gene.
Thumdee, Patama. "The prenatal expression of mRNA and protein of the prion protein gene, PRNP, in sheep." [S.l.] : [s.n.], 2007. http://deposit.ddb.de/cgi-bin/dokserv?idn=983755728.
Full textUzun, Begum. "Surveillance Of Prion Protein (prp) Gene Polymorphisms In Turkish Native Sheep Breeds." Master's thesis, METU, 2012. http://etd.lib.metu.edu.tr/upload/12614353/index.pdf.
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eada). One novel allele (TL141HQ) was observed in Sakiz breed for the first time in this study.
Mallucci, Giovanna Rachele. "Prion protein gene knockout in the mouse using the Cre/1oxP system." Thesis, Imperial College London, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271231.
Full textMahal, Sukhvir Paul. "Isolation and characterisation of the promoter region of the human prion protein gene." Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313746.
Full textPeralta, Oscar Alejandro. "Developmental Regulation of Prion Expression in Cattle and Mouse Embryonic Stem Cells." Diss., Virginia Tech, 2008. http://hdl.handle.net/10919/28584.
Full textPh. D.
Ribeiro, Fernanda Trentini Lopes. "Polimorfismo do gene da proteína prion celular (prpc) e imunohistoquímica de tecido linfóide em ovinos = Polymorphism of cellular prion protein (PrPC) and immunohistochemistry of lymphoid tissue of sheep / Fernanda Trentini Lopes Ribeiro ; orientadora, Cristina Santos Sotomaior." reponame:Biblioteca Digital de Teses e Dissertações da PUC_PR, 2011. http://www.biblioteca.pucpr.br/tede/tde_busca/arquivo.php?codArquivo=2231.
Full textInclui bibliografias
Scrapie é uma doença neurodegenerativa, progressiva e fatal de ovinos e caprinos, pertencente ao grupo das Encefalopatias Espongiformes Transmissíveis (EETs), ou doenças priônicas. O acúmulo de uma isoforma normal (PrPSc) da proteína prion celular (PrPC)
Scrapie is a fatal, neurodegenerative disease that affects sheep and goats and belongs to the Transmissible Spongiform Encephalopathies (TSEs) or prion diseases. It is caused by the deposition of an abnormal isoform (PrPSc) of the host-encoded cellular pr
Smid, Jerusa. "Poliformismos do gene da proteína príon celular em pacientes com doença de Alzheimer." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-24052011-142607/.
Full textINTRODUCTION: The polymorphism in the prion protein gene (PRNP) may influence non prion neurological diseases. Some reports associate Alzheimers disease (AD) and the polymorphic codon 129 of the PRNP. This association has not been studied in Brazilian population. In this study we aimed to describe the association between the polymorphisms of codon 129 of the PRNP and AD. METHODS: One hundred AD patients were evaluated in the Cognitive and Behavioral Neurology Unit and Cognitive Disorders Reference Center of the Hospital das Clínicas of the University of São Paulo School of Medicine, matched for 111 controls, regarding to the PRNP polymorphism and cognitive measures. The PRNP polymorphisms were analyzed using denaturing high-performance liquid chromatography (DHPLC). Analyzes stratifying by apoE genotype was performed. RESULTS: The distribution of the codon 129 polymorphisms were: 45.5% M/M, 42.4% M/V and 12.2% V/V in AD patients; 39.6% M/M, 50.5% M/V and 9.9% V/V in the control group (p=0.503). The 117 codon analysis revealed silent allelic variant in 5% of AD patients and 3% of controls (p=0.780). The octarepeat deletion occurred in 5% of AD and 4% of controls (p=0.738). All AD patients and controls were N171N. One AD patient had a point mutation at codon 180 (V180I). Logistic regression failed to confirm any association between AD cognitive performance and the codon 129 of PRNP, as well as in the control group. There was no association between the codon 129 genotypes and genotypes and AD according to the apoE stratification. CONCLUSIONS: There were no differences in the frequency of the codon 129 polymorphism between AD. control group, according to the codon 129 polymorphisms. A point mutation at the codon 180 (V180I) was diagnosed in one patient
Seabury, Christopher Mark. "Genetic evaluation of the ovine and bovine prion protein genes (PRNP)." Texas A&M University, 2004. http://hdl.handle.net/1969.1/3333.
Full textYvinec, Romain. "Modélisation probabiliste en biologie moléculaire et cellulaire." Phd thesis, Université Claude Bernard - Lyon I, 2012. http://tel.archives-ouvertes.fr/tel-00749633.
Full textPimenta, Jorge Manuel Botelho Garcia Andrade. "Insights into the role of “prion-like” genes and proteins on scrapie susceptibility and ram fertility." Doctoral thesis, Universidade Técnica de Lisboa. Faculdade de Medicina Veterinária, 2013. http://hdl.handle.net/10400.5/5875.
Full textThe established association between polymorphisms of prnp prion gene and susceptibility to scrapie disease in sheep prompted the development of breeding programmes aimed at increasing the natural resistance to scrapie in the European Union. In order to study the possible undesirable consequences from the widespread selection for the prnp genotype on ovine genetic diversity and reproduction, we primarily focused our investigation in the ovine prnd gene which encodes a prion-like protein designated as Doppel that maps to the same chromosomal region as prnp, but is mainly expressed in testis. When prnd is overexpressed in the nervous tissue, Doppel is neurotoxic and causes neurodegenerative disease. We genotyped 460 animals (207 female and 253 male) from 8 Portuguese sheep breeds (Bordaleira entre Douro e Minho, Churra Badana, C. Galega Mirandesa, C. Mondegueira, Merino da Beira-Baixa, M. Branco, Saloia e Serra da Estrela), for prnp and prnd and established a parallel between a polymorphism in the prnd gene (78G>A) and scrapie susceptibility. We also identified an association between prnd polymorphisms and fertility traits. Upholding the emphasis on ovine reproduction, recombinant Doppel (rDpl) was supplemented in different concentrations to ram spermatozoa during the capacitation process. Regardless of dosage, rDpl improved sperm individual motility and vigour, and enhanced in vitro spermatozoa fertilizing ability. In addition, we determined by Nuclear Magnetic Resonance (NMR) spectroscopy the three-dimensional structure of the N-terminal (1-30) ovine Doppel (OvDpl) peptide, encompassing the 78G>A polymorphism and the entire signal peptide sequence. The new solved three-dimensional structure was subsequently used to construct molecular models with the M-domain of the signal recognition particle subunit (SRP54M). Simultaneously, we were able to obtain soluble mature Dpl protein through the co-expression with the SUMO chaperone. Finally, we developed a new polyclonal antibody (APPA) demonstrating for the first time that the recently discovered ovine prnt gene is a translated protein-coding gene and not a pseudogene, and identified through immunofluorescence and immunohistochemistry the location pattern of the encoded protein Prt in ram testis along spermatogenesis and in ejaculated spermatozoa. These results guided us to our last work, where data obtained through Prt blockage pointed to a physiological role for Prt in ovine fertilization (possibly through an interaction with zona pellucida proteins), reinforcing the importance of prion-like genes and proteins in the ovine reproductive physiology.
RESUMO - Estudo do efeito de genes e proteínas do tipo priónico na susceptibilidade ao tremor epizoótico e na fertilidade de ovinos - A relação estabelecida entre os polimorfismos do gene priónico (prnp) e a susceptibilidade ao tremor epizoótico determinou o desenvolvimento de programas de seleção, visando aumentar a resistência a esta doença no efetivo ovino de países da União Europeia. A fim de estudar as eventuais consequências indesejáveis por parte da seleção generalizada para o genótipo prnp ao nível da diversidade genética e das características reprodutivas dos ovinos, centrámos inicialmente o nosso trabalho no gene prnd, que codifica uma proteína do tipo priónico designada por Doppel. Este gene localiza-se na mesma região cromossómica do gene prnp, mas a sua expressão fisiológica ocorre maioritariamente no testículo, ao contrário do gene prnp cuja expressão apresenta maior afinidade para o sistema nervoso. De facto, a proteína Doppel apresenta características de neurotoxicidade quando a sua sobrexpressão é induzida no tecido nervoso. No nosso estudo, começámos por genotipar 460 ovinos (207 fêmeas e 253 machos) de 8 raças (Bordaleira entre Douro e Minho, Churra Badana, C. Galega Mirandesa, C. Mondegueira, Merino da Beira-Baixa, M. Branco, Saloia e Serra da Estrela), ao nível dos genes prnp e prnd, estabelecendo posteriormente uma associação entre um polimorfismo no gene prnd (78G>A) e a susceptibilidade ao tremor epizoótico. Foi igualmente possível identificar uma associação entre os polimorfismos detetados no gene prnd e certos parâmetros reprodutivos dos ovinos. Posteriormente, quando adicionámos doses crescentes de proteína Doppel recombinante (rDpl) ao meio de capacitação de espermatozoides de carneiro verificámos uma melhoria na motilidade individual e vigor dos espermatozoides, assim como na sua capacidade de fertilização in vitro. Foi igualmente possível determinar por espectroscopia de Ressonância Magnética Nuclear (RMN) a estrutura tridimensional da região N-terminal (1-30) da proteína Doppel ovina (OvDpl), permitindo caracterizar melhor uma região que abarca o referido polimorfismo e a sequência integral do péptido de sinal desta proteína. Esta nova estrutura foi posteriormente utilizada em estudos bioinformáticos de docking com o domínio M da proteína de reconhecimento do sinal (SPR54M). Simultaneamente, fazendo uso das propriedades de chaperone da proteína SUMO, foi possível expressar a proteína Dpl ovina na forma solúvel. Finalmente foi desenvolvido um novo anticorpo policlonal demonstrando pela primeira vez que o gene prnt é um gene funcional, tendo sido possível identificar através de técnicas de imunofluorescência e imunohistoquímica, o padrão de localização da proteína Prt ovina em células germinativas no decurso da espermatogênese, e em espermatozoides ejaculados. De forma a complementar os dados obtidos foi realizado o bloqueio da Prt ovina durante a fertilização in vitro, sendo assim possível obter indicadores que apontam para um papel de relevo por parte desta proteína ao nível da fase inicial da fertilização (eventualmente ao nível da ligação dos espermatozoides à zona pelúcida), reafirmando assim a importância das proteínas do tipo priónico na fisiologia reprodutiva dos ovinos.
This work was co-funded by Centro de Investigação Interdisciplinar em Sanidade Animal (Project CIISA, Faculdade de Medicina Veterinária da Universidade Técnica de Lisboa) and Fundação para a Ciência e a Tecnologia (POCTI/CVT/57148/2004 and PTDC/CVT/098607/2008).
Kuramoto, Takashi. "Tremor and zitter, cauative mutant genes for epilepsy with spongiform encephalopathy in spontaneously epileptic rat (SER), are tightly linked to synaptobrevin-2 and prion protein genes, respectively." Kyoto University, 1998. http://hdl.handle.net/2433/156989.
Full textKyoto University (京都大学)
0048
新制・課程博士
博士(医学)
甲第7060号
医博第1956号
新制||医||681(附属図書館)
UT51-98-C173
京都大学大学院医学研究科病理系専攻
(主査)教授 川口 三郎, 教授 柴崎 浩, 教授 芹川 忠夫
学位規則第4条第1項該当
Schmid, Ramona [Verfasser], and Roland [Akademischer Betreuer] Eils. "Analyzing Compounds’ Mode of Action - A Use Case for New Approaches Utilizing Protein Interaction Networks and Prior Knowledge to Complement State-of-the-Art Gene Expression Analyses / Ramona Schmid ; Betreuer: Roland Eils." Heidelberg : Universitätsbibliothek Heidelberg, 2012. http://d-nb.info/1179786343/34.
Full textPremzl, Marko. "Prion Protein Gene and Its Shadow." Phd thesis, 2004. http://hdl.handle.net/1885/48000.
Full text"Genetic variation in humans and chimpanzees in the prion protein gene." Universitat Pompeu Fabra, 2005. http://www.tesisenxarxa.net/TDX-0202110-115800/.
Full textThumdee, Patama [Verfasser]. "The prenatal expression of mRNA and protein of the prion protein gene, PRNP, in sheep / von Patama Thumdee." 2007. http://d-nb.info/983755728/34.
Full textVassilieva, Tatiana. "Coevolution of expression of prion-protein and doppel genes." Phd thesis, 2015. http://hdl.handle.net/1885/151173.
Full textHeinig, Lars. "„Ex vivo” Replikation des pathogenen Prion Proteins." Doctoral thesis, 2006. http://hdl.handle.net/11858/00-1735-0000-0006-AC42-F.
Full textFernandes, Daniela Alexandra Paixão. "Agentes sub-virais em patologia humana: os prions." Master's thesis, 2013. http://hdl.handle.net/10451/46187.
Full textEste trabalho tem como objectivo reunir informação de forma a permitir uma melhor clarificação da estrutura e funções da proteína priónica celular, definir os mecanismo que levam a doenças priónicas e as consequências desse acontecimento. Analisar as melhores formas de diagnóstico e de intervenção terapêutica. Para efectuar o trabalho recorreu-se a pesquisa bibliográfica principalmente através do Pubmed, com recurso a palavras-chaves. Apesar da estrutura da proteína já se encontrar definida o mecanismo pela qual ela se torna infecciosa permanece ainda em aberto. A proteína infecciosa causa diversas patologias, quer a nível humano ou animal, apresentando todas um caractér neurodegenerativo fatal. A nível de diagnóstico têm sido efectuados esforços na procura de marcadores presentes em fluídos biológicos que permitam a detecção ante mordem das patologias de forma eficiente, apesar dos resultados não serem os mais satisfatórios. Os avanços a nível da terapêutica dependem da definição de um bom método de diagnóstico.
The aim of the present study is to gather information for a better understanding of the structure and function of the cellular prionic protein and to define the mechanisms that lead to prionic diseases and its consequences. The best diagnostic methods and the therapeutic intervention are also of importance. Bibliographic research was made mainly through Pubmed, by the use of key words. Although the structure of the protein has already been defined, the mechanism that leads to infectiousness remains to be understood. The infectious protein causes numerous pathologies in humans and in animals and all of them have a fatal neurodegenerative nature. Regarding the diagnosis, efforts have been made to look for markers in biological fluids that can make efficient antemortem detection of the pathology even though results are not entirely satisfactory. Therapeutic breakthroughs are dependent on the definition of a good diagnostic method.
Wang, Vinchi, and 王文奇. "Studies on signal transduction pathway of NO-induced prion protein expression and the genetic polymorphisms of sod2 and prnp genes in Taiwanese population." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/17798884090410516087.
Full text國防醫學院
醫學科學研究所
94
The neurodegenerative disorders, such as Parkinson’s disease and human Creutzfeldt-Jakob disease, may involve nitric oxide signaling. Nitric oxide (NO) acts as a signaling gas molecule and also plays a role under stress conditions in neurodegeneration. The prion protein (PrP) is the key pathogen in the transmissible spongiform encephalopathy. We proposed that the NO might mediate the induction of PrP. The lipopolysaccharide and NO donor, sodium nitroprusside, were used as the NO stimuli in cellular studies. MEK and p38 MAPK signaling were documented by the pharmacological blockers on the induction of PrP by NO. The NO during stress conditions in neurodegeneration lays prime importance on further investigation about the pathogenesis and therapeutic approach. Besides, due to the importance of oxidative stress in neurodegeneration, the genetic evaluation about the general population in Mn-bound superoxide dismutase (MnSOD) and PrP may be a new molecular epidemiological study for the public health. The results showed that the Taiwanese genetic polymorphisms in MnSOD and PrP had different distributive pattern as compared with those in the Caucasians. It is interesting for further monitoring the disease incidence and prevalence in the population, especially the neurodegenerative disorders.