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Thematische Bibliographien / Angelman Syndromes / Dissertationen

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Dissertationen zum Thema „Angelman Syndromes“

Autor: Grafiati

Veröffentlicht am 4. Juni 2021

Zuletzt aktualisiert am 1. Februar 2022

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1

Mount, Rebecca Helen. "An exploration of pro-social behaviour in genetic syndromes, with a focus on Angelman and Williams syndromes." Thesis, University of Birmingham, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.423365.

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2

Handley, Louise. "Movement disorders and catatonia-like presentations in rare genetic syndromes." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/movement-disorders-and-catatonialike-presentations-in-rare-genetic-syndromes(581c9b5a-0681-4a14-8b49-35fecded2f55).html.

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The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic

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3

Kokkonen, H. (Hannaleena). "Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland." Doctoral thesis, University of Oulu, 2003. http://urn.fi/urn:isbn:9514270274.

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Abstract The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene function. In this study, the genetic changes of 15q11-q13 and their possible inheritance in Finnish PWS (n=76) and AS (n=47) patients are described. The diagnosis could be confirmed by laboratory methods in all PWS and in 43 (91%) AS patients. A deletion of 15q11-q13 accounted for 76% of the PWS and 67% of the AS patients in whom a specific g

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Tunnicliffe, Penelope Louisa. "Self-injurious and aggressive behaviour in Angelman, Cri du Chat and Cornelia de Lange syndromes." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/768/.

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In a series of studies, the role of operant reinforcement of phenotypic problem behaviours in Angelman, Cri du Chat and Cornelia de Lange syndromes was explored. Firstly, a systematic review of the literature highlighted papers with robust experimental functional analytic designs; providing appropriate methodology for the subsequent studies. The review also showed a trend towards an increase in the number of published papers that linked facets of the behavioural phenotype to challenging behaviour (gene-environment interactions). Next, the phenomenology and correlates of self-injurious and aggr

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Peery, Edwin G. "Using mouse models to study the mechanism of imprinting involved in prader-willi and angelman syndromes." [Gainesville, Fla.] : University of Florida, 2004. http://purl.fcla.edu/fcla/etd/UFE0008392.

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Thesis (Ph.D.)--University of Florida, 2004.<br>Typescript. Title from title page of source document. Document formatted into pages; contains 141 pages. Includes Vita. Includes bibliographical references.

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Olivera, Curotti Graciela Renée. "Evaluation diagnostique et pronostique des syndromes microdeletionnels en genetique post et prenatale : cytogenetique classique et genetique moleculaire des microdeletions ; recherche de disomie uniparentale (dup) dans la region critique des syndromes de prader-willi et d'angelman (15q11-q13) (doctorat : biologie et sciences de la sante)." Rennes 1, 1999. http://www.theses.fr/1999REN1B040.

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7

Villatoro, Gómez Sergio. "Estudio de variantes estructurales del genoma humano asociadas a trastornos del neurodesarrollo." Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/400662.

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El síndrome de Angelman (SA) y el de Prader Wili (SPW) son trastornos del neurodesarrollo cuya principal etiología molecular es la deleción de la región 15q11.2-q13. Esta deleción está promovida por la Recombinación Homóloga No Alélica (NAHR) y mediada por secuencias altamente repetitivas de bajo número de copias (LCRs) que la flanquean. La orientación de estas LCRs predispone al reordenamiento final que se obtendrá por NAHR. Las LCRs en orientación directa generan deleciones y duplicaciones mientras las que presentan orientación invertida originan inversiones. Estas inversiones pueden facilit

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Locke, Devin Paul. "SEGMENTAL DUPLICATIONS PROMOTE GENOMIC INSTABILITY IN HUMAN CHROMOSOME 15q11-q13." Case Western Reserve University School of Graduate Studies / OhioLINK, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=case1088114861.

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9

Adams, Dawn M. "Laughing and smiling in angelman syndrome." Thesis, University of Southampton, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.505819.

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10

MALZAC, PERRINE. "Le syndrome d'angelman : etude clinique, cytogenetique et moleculaire." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20909.

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11

Heald, Mary Elizabeth. "Refining the behavioural phenotype of Angelman syndrome." Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/5130/.

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Angelman syndrome is associated with distinctive behavioural characteristics including frequent laughing and smiling, heightened motivation for adult attention, sensory seeking, aggression and impaired learning. The main aim of this thesis was to refine and extend description of the behavioural characteristics of Angelman syndrome, including sensory processing and sociability, in order to establish the principles of intervention to increase the speed of acquisition and lower levels of ‘challenging behaviours’, with a focus on excessive social approach. A longitudinal study highlighted limited

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Robinett, Sheldon J. (Sheldon Jay). "Genomic imprinting: support for the concept from a study of Prader-Willi Syndrome patients." Thesis, University of North Texas, 1994. https://digital.library.unt.edu/ark:/67531/metadc332745/.

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In this study, nineteen cases of suspected or clinically diagnosed Prader-Willi Syndrome (PWS) were tested for molecular deletions by in situ hybridization with two DNA probes, IR4-3R and GABRB3. Both probes are specific for sequences within the chromosome region 15q11-13, with IR4-3R located within the putative PWS region and GABRB3 in the distal area associated with Angelman Syndrome.

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Mandel-Brehm, Caleigh. "A Behavioral and Molecular Approach for Understanding Angelman Syndrome." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:26718736.

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Autism Spectrum Disorder (ASD) is a set of human developmental disorders that affects ~1 in 68 children. The clinical features of ASD include deficits in social behavior and frequent co-morbidity of motor, emotional and sensory impairment. Currently, there are no effective treatments. A major obstacle for treating ASD is the limited knowledge of the neuronal circuits that drive these complex behaviors. Several monogenic, or single-gene, disorders that possess similar features to ASD have been identified, implicating a role for molecular pathways in the development of these behavioral circuit

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CHARVET, FRANCOIS. "Contribution a l'etude du syndrome d'angelman : a propos d'une observation." Aix-Marseille 2, 1989. http://www.theses.fr/1989AIX20025.

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Daily, Jennifer L. "Efficacy of Increased Ube3a Protein Levels in the Brain in Rescuing the Phenotype of an Angelman Syndrome Mouse." Scholar Commons, 2012. http://scholarcommons.usf.edu/etd/4305.

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Angelman syndrome (AS), a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes an E6-AP ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human dis

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Filonova, Irina. "Ube3a Role in Synaptic Plasticity and Neurodevelopmental Disorders.The Lessons from Angelman Syndrome." Scholar Commons, 2014. https://scholarcommons.usf.edu/etd/5015.

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Angelman Syndrome (AS) is a severe neurodevelopmental disorder that affects 1:12000 newborns. It is characterized by mental retardation, delayed major motor and cognitive milestones, seizures, absence of speech and excessive laughter. The majority of AS cases arise from deletions or mutations of UBE3A gene located on the chromosome 15q11-13. UBE3A codes for E3-ubiquitin ligase that target specific proteins for degradation. To date, a wide variety of Ube3a substrates has been identified. The accumulation of Ube3a-dependent proteins and their effect on the multitude of signal transduction pathwa

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Rodriguez-Jato, Sara. "Identification and characterization of cis-acting elements in the regulation of imprinted gene expression." [Gainesville, Fla.] : University of Florida, 2004. http://wwwlib.umi.com/cr/ufl/fullcit?p3138595.

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Thesis (Ph.D.)--University of Florida, 2004.<br>Typescript. Title from title page of source document. Document formatted into pages; contains 148 pages. Includes Vita. Includes bibliographical references.

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Salogiannis, John. "Regulation of excitatory synapse development by the RhoGEF Ephexin5." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:11082.

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The neuronal synapse is a specialized cell-cell junction that mediates communication between neurons. The formation of a synapse requires the coordinated activity of signaling molecules that can either promote or restrict synapse number and function. Tight regulation of these signaling molecules are critical to ensure that synapses form in the correct number, time and place during brain development. A number of molecular mechanisms that promote synapse formation have been elucidated, but specific mechanisms that restrict synapse formation are less well understood. The findings presented wi

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Burrow, Caroline Elizabeth. "An investigation of sleep disturbance experienced by children with Angelman syndrome and Prader-Willi syndrome and their parents." Thesis, University of Birmingham, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.486629.

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Background: Sleep disturbance is documented as part of the behavioural phenotype ofAngelman syndrome (AS) and its 'sister' syndrome, Prader-Willi syndrome (PWS). Method: The sleeping patterns of22 children (AS 12, PWS 10), aged 5-13 years, and their parents were investigated using parental reports and actigraphy. Findings: Both groups of children have less sleep than would be expected for children oftheir age, and both groups experience night and early morning wakings. Both groups of children may take some time to fall asleep but children with AS appear to have more severe settling difficultie

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Hatt, Allyson Lesly. "Angelman's syndrome case study and appropriate educational curriculum." Lynchburg, Va. : Liberty University, 1988. http://digitalcommons.liberty.edu.

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Stoppel, David Christopher. "Social Behavior and Gene Expression Disturbances in Mouse Models of Angelman Syndrome and Idic15 Autism." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11314.

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Reciprocal changes in UBE3A gene dosage cause two neurodevelopmental disorders. Maternally inherited deletions of UBE3A cause Angelman syndrome, characterized by intellectual disability, motor defects, seizures, and a pathognomonic increased social motivation. Whereas maternally inherited triplications of UBE3A as in Idic15 Autism underlie decreased sociability and increased repetitive restrictive behaviors of this disorder. Identifying the cellular compartments and neuronal subtypes where excess and loss of Ube3a impair behavior is essential to understanding and potentially treating the disor

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Grieco, Joseph Christopher. "Minocycline Treatment and the Necessity to Develop a Novel Outcome Measure for Children with Angelman Syndrome." Scholar Commons, 2015. http://scholarcommons.usf.edu/etd/5693.

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Angelman syndrome (AS) is a rare genetic disorder affecting 1/10,000 to 1/20,000 births. This disorder arises through the genetic disruption of the maternal UBE3A allele, which when coupled with epigenetic silencing of the paternal allele UBE3A allele, gives rise to an absence of UBE3A protein in the central nervous system. Clinical manifestations of the syndrome vary in severity and include poor motor function, deficits in language and severe intellectual impairments. Previous research in the Angelman syndrome mouse model revealed abnormalities in dendritic spine density and morphology of hip

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Neureiter, Anika [Verfasser], and Peter A. [Akademischer Betreuer] Horn. "Modelling Angelman syndrome with patient specific induced pluripotent stem cells / Anika Neureiter ; Betreuer: Peter Horn." Duisburg, 2019. http://d-nb.info/1225308224/34.

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Wu, Katie Jennifer. "The influence of UBE3A, NEDD4L, and ARFGEF2 on the progression of Angelman syndrome and sickle cell anemia." Thesis, Boston University, 2012. https://hdl.handle.net/2144/12683.

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Thesis (M.A.)--Boston University PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you.<br>This project investigates the impact of UBE3A, NEDD4L, and ARFGEF2 on disorder and disease in humans. UBE3A is a member of the homologous to E6AP COOH-terminus (HECT) E3 ubiquitin ligase family and is parentally

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Ciarlone, Stephanie Lynn. "The Effects of Synthetic and Dietary Therapeutics on Learning, Memory, Motor Coordination, and Seizure in an Angelman Syndrome Mouse Model." Scholar Commons, 2016. http://scholarcommons.usf.edu/etd/6482.

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Angelman syndrome (AS) is a rare genetic and neurological disorder presenting with severe developmental delay, ataxia, epilepsy, and lack of speech. AS is associated with a neuron-specific loss of function of the maternal UBE3A allele, a gene encoding an E3 ubiquitin ligase. Currently, no cure exists for this disorder; however, recent research using an AS mouse model suggests that pharmacological intervention is plausible, and can alleviate some of the detrimental phenotypes reported in AS patients. Although there is no curative treatment for AS, seizure medication and behavioral therapies are

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Cruvinel, Estela Mitie. "Estudo de expressão do gene UBE3A em neurônios derivados de células-tronco da polpa dentária de pacientes com a síndrome de Angelman." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-22092011-135856/.

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Síndrome de Angelman (AS - MIM 105830) é causada pela ausência de função do gene UBE3A que codifica uma proteína ubiquitina - ligase (E6-AP). Esse gene é expresso bialelicamente em vários tecidos exceto no cérebro, onde a expressão é preferencialmente materna. O RNA anti-senso de UBE3A é considerado o regulador dessa expressão diferencial entre os alelos, e faz parte de um transcrito grande que só o alelo paterno é expresso devido ao imprinting genômico; no cérebro, esse transcrito se entende até a região anti-senso de UBE3A, mas nos demais tecidos o transcrito é menor e não engloba a região a

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Stanurova, Jana [Verfasser], and Bernhard [Akademischer Betreuer] Horsthemke. "Induction of site-specific methylation in induced pluripotent stem cells of a patient with Angelman syndrome / Jana Stanurova ; Betreuer: Bernhard Horsthemke." Duisburg, 2017. http://d-nb.info/1144856655/34.

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Netto, Marcia Mirian Ferreira Corrêa. "A Comunicação Alternativa favorecendo a aprendizagem de crianças com autismo, Asperger e Angelman: formação continuada de profissionais de Educação e Saúde." Universidade do Estado do Rio de Janeiro, 2012. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=5505.

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A formação continuada de profissionais de Educação e Saúde se constitui como objeto desta dissertação. Na presente pesquisa pretendi planejar, implementar e avaliar os efeitos de um programa de formação continuada de profissionais de Educação e Saúde, oferecendo instruções e orientações de uso dos recursos da Comunicação Alternativa e Ampliada (CAA), para favorecer a comunicação e aprendizagem de crianças com autismo, Asperger e Angelman. Os estudos foram realizados em uma escola regular e em uma instituição especializada, com abordagem clínica-terapêutica-educacional. O universo da pesquisa a

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Runte, Maren. "Identifizierung und Expressionsanalyse der SNURF-SNRPN-Sense -UBE3A-Antisense- Transkriptionseinheit in der Prader-Willi-/Angelman-Syndrom-Region auf Chromosom 15." [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=971368589.

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Neubert, Gerda [Verfasser]. "Hereditäre Mikrozephalien: Charakterisierung des Pathomechanismus der Autosomal-rezessiven primären Mikrozephalie Typ 3 und klinisch-genetischer Aspekt bei Angelman-Syndrom / Gerda Neubert." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2016. http://d-nb.info/1082237736/34.

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Cruvinel, Estela Mitie. "Estudo da expressão diferencial de genes localizados no segmento cromossômico 15q11-q13 em pacientes com as síndromes de Angelman e Prader-Willi." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-24092015-133351/.

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A síndrome de Prader Willi (PWS) é uma doença de neurodesenvolvimento; a principal hipótese de causa de PWS é a ausência da expressão de SNORD116. O SNORD116 fica na região 15q11-q13 que apresenta vários genes com imprinting genômico e é conhecida por ser controlada pela região de controle de imprinting PWS (PWS-IC) que se localiza sobreposta à região promotora e ao exon 1 do gene SNRPN. Em camundongos, uma proteína zinc finger (Zfp57) foi descrita como importante para o estabelecimento e manutenção do imprinting no Snrpn. Através de análise do ENCODE do Genome Browser, verificamos que outra p

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Allmaras, Sibylle [Verfasser], and Angela [Akademischer Betreuer] Abicht. "Phänotypen, Mutationsdetektionsrate und Mutationsspektrum in einem Kollektiv von Patienten mit kongenitalen myasthenen Syndromen (CMS) / Sibylle Allmaras. Betreuer: Angela Abicht." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/1065610599/34.

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Aguilera, Román Cinthia. "Identificació de nous gens responsables de la síndrome d’Angelman-like." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/670321.

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La síndrome d’Angelman (SA) és un trastorn neurogenètic caracteritzat per discapacitat intel·lectual greu amb absència de parla, característiques craniofacials dismòrfiques distintives, problemes neurològics com l’atàxia i/o tremolor en les extremitats i epilèpsia amb un patró específic d’electroencefalograma (EEG). El fenotip conductual es caracteritza per una aparença feliç, hiperactivitat, dèficit d’atenció i problemes de la son. La seva prevalença és d’aproximadament 1/15.000 naixements. La causa de la SA és la pèrdua d’expressió en neurones de la proteïna ubiquitina lligasa E6-AP codific

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Gallenmüller, Constanze [Verfasser], and Angela [Akademischer Betreuer] Abicht. "Molekulargenetische Analyse bei Patienten mit kongenitalen myasthenen Syndromen : Untersuchung von seltenen Krankheitsgenen und von Kandidatengenen des Hexosaminstoffwechselweges / Constanze Gallenmüller. Betreuer: Angela Abicht." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/106620649X/34.

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Assmann, Angela [Verfasser], Oliver [Akademischer Betreuer] Gross, Max [Akademischer Betreuer] Lakomek, and Margarete [Akademischer Betreuer] Schön. "Prognose von Patienten mit Alport-Syndrom unter Berücksichtigung einer medikamentösen Intervention und verschiedener Nierenersatzverfahren / Angela Assmann. Gutachter: Max Lakomek ; Margarete Schön. Betreuer: Oliver Gross." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2015. http://d-nb.info/1065881983/34.

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Dill, Veronika [Verfasser], Philipp J. [Akademischer Betreuer] Jost, Philipp J. [Gutachter] Jost, Angela [Gutachter] Krackhardt, and Florian [Gutachter] Bassermann. "Aufhebung erworbener Apoptoseresistenz als therapeutischer Ansatz für Patienten mit Myelodysplastischen Syndromen (MDS) und Patienten mit sekundärer akuter myeloischer Leukämie (sAML) / Veronika Dill ; Gutachter: Philipp J. Jost, Angela Krackhardt, Florian Bassermann ; Betreuer: Philipp J. Jost." München : Universitätsbibliothek der TU München, 2019. http://d-nb.info/1200098412/34.

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Doubková, Světla. "Vývojová specifika jedinců s Angelmanovým syndromem a syndromem Prader - Willi jako východiska pro práci speciálního pedagoga." Master's thesis, 2014. http://www.nusl.cz/ntk/nusl-335018.

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Developmental specifics of individuals with Angelman and Prader - Willi syndrome as the basis for special educator's work The thesis deals in a complex way with the issue of two rare syndromes - Angelman and Prader- Willi syndrome. It describes the manifestations and genetic background, outlines the options for special education and rehabilitation interventions as well as selected medical and regime measures. The thesis informs about the category of rare diseases and also mentions the strategies for approach to these diseases used in the Czech Republic. It also comprises a list of organization

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Wu, Yaning 1974. "Establishing a Drosophila model for Angelman syndrome." Thesis, 2007. http://hdl.handle.net/2152/3357.

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Drosophila models for human diseases have helped in advancing our knowledge on human diseases and the discovery of potential treatments. Angelman syndrome is a rare neurological disorder that results in severe mental retardation and loss of motor coordination. The disease is caused by loss-of-function mutations in the UBE3A gene encoding a HECT domain ubiquitin protein ligase. Drosophila dube3a is the fly homolog of human UBE3A and their protein products share ~55% similarity in amino acid sequence along the entire length of the proteins. My goal was to develop a Drosophila AS model that will

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Sá, Ana Teresa Capitão Moreira de. "Targeting adenosine A2A receptors to manage Angelman syndrome symptoms." Master's thesis, 2019. http://hdl.handle.net/10316/87879.

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Dissertação de Mestrado em Biologia Celular e Molecular apresentada à Faculdade de Ciências e Tecnologia<br>A síndrome de Angelman (SA) é um distúrbio neuro-genético raro caracterizado por atrasos no desenvolvimento cognitivo, défices motores (ataxia e movimentos desconexos), crises epiléticas e um comportamento peculiar, com os pacientes a manifestar um sorriso fácil e frequente. Esta patologia está associada a uma variedade de mecanismos genéticos e epigenéticos que envolvem a região cromossómica 15q11.2-q13, os quais resultam na perda de função da proteína Ube3A nos neurónios – codificada p

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Joaquim, Mariana Isabel Lopes. "Exploring cell reprogramming techniques for Angelman Syndrome disease modelling." Master's thesis, 2017. http://hdl.handle.net/10362/42365.

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Angelman Syndrome (AS) is an imprinted neurodevelopmental disease with no cure caused by the lack of UBE3A expression, which, in neurons, is exclusively maternally expressed. The paternal UBE3A allele is silenced by the UBE3A antisense transcript (UBE3A-ATS), which is only expressed from the paternal chromosome. In AS mouse model, inhibition of the UBE3A-ATS transcription can reactivate paternal UBE3A. To translate such an approach to humans, the development of a cellular model for this disease is necessary. Here we sought to develop cellular model systems of AS from patient-derived fibroblas

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Freitas, Paula Cristina Fernandes de. "O impacto da hipoterapia em crianças com Síndrome de Angelman : estudo de caso." Master's thesis, 2014. http://hdl.handle.net/10400.14/18483.

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A generalização do direito à educação institui uma das mais expressivas conquistas resultantes da modernização das sociedades, conferindo liberdade de aprender a todas as crianças com ou sem deficiência, assim como, o direito à sua construção pessoal e social, ou seja à sua real inclusão. O presente estudo, focaliza-se na Síndrome de Angelman, uma doença rara de base genética que se revela num distúrbio neurológico que causa atraso mental grave, alterações do comportamento, demora no desenvolvimento psicomotor, ausência de fala e deficit de atenção. Quisemos verificar a influência da i

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Condon, Kathryn Helen. "Alteration of Golgi Apparatus Ion Homeostasis in Cellular and Mouse Models of Angelman Syndrome." Diss., 2009. http://hdl.handle.net/10161/1297.

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<p>Ube3a is a HECT domain E3 ubiquitin ligase originally recognized for its role in degrading p53 in the presence of the human papilloma virus protein E6. Loss of maternal Ube3a expression causes Angelman syndrome, a severe neurodevelopmental disorder characterized by mental retardation, ataxia, epilepsy, lack of speech, and a unique behavioral phenotype that includes a happy demeanor and frequent laughing. However, characterization of the endogenous properties and cellular role for Ube3a has been limited. Over the last few years, an interesting cohort of Ube3a interacting partners and putati

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Sivá, Monika. "Hledání biologické role rodiny proteinů podobných Ddi1." Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-396154.

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Ddi1-like protein family has been recently raised into the spotlight by the scientific community due to its important roles in cellular homeostasis maintenance. It represents a specific group among shuttling proteins of the ubiquitin-proteasome system. When compared to other shuttles, Ddi1-like protein family members harbor a unique retroviral-protease like domain besides the conventional ubiquitin-like (UBL) domain and domains interacting with ubiquitin. In addition, a helical domain of Ddi (HDD) has been recently found in most of the orthologs. In this thesis, I focus on characterization of

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"Disrupted Synaptic Transmission and Abnormal Short-term Synaptic Plasticity in an Angelman Syndrome Mouse Model." Doctoral diss., 2017. http://hdl.handle.net/2286/R.I.44228.

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abstract: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delays, intellectual disabilities, impaired language and speech, and movement defects. Most AS cases are caused by dysfunction of a maternally-expressed E3 ubiquitin ligase (UBE3A, also known as E6 associated protein, E6-AP) in neurons. Currently, the mechanism on how loss-of-function of the enzyme influences the nervous system development remains unknown. We hypothesize that impaired metabolism of proteins, most likely those related to E6-AP substrates, may alter the developmental trajectory of ne

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Brandão, Duarte Pólvora. "Generation and characterization of Angelman Syndrome iPSCs for disease modelling and drug screening." Dissertação, 2016. https://repositorio-aberto.up.pt/handle/10216/90966.

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Brandão, Duarte Pólvora. "Generation and characterization of Angelman Syndrome iPSCs for disease modelling and drug screening." Master's thesis, 2016. https://repositorio-aberto.up.pt/handle/10216/90966.

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Vieira, Adriana Andrade. "In vitro Modeling of Angelman Syndrome using the Neural Commitment of Patient-Specific iPSCs." Master's thesis, 2020. http://hdl.handle.net/10451/47760.

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Tese de mestrado, Biologia Molecular e Genética, Universidade de Lisboa, Faculdade de Ciências, 2020<br>Angelman syndrome (AS) is a rare neurodevelopmental disorder with no cure, characterized by a severe developmental delay, speech impairment, motor dysfunction, and a characteristic happy behavior. AS is caused by the loss of functional UBE3A protein, an E3 ubiquitin ligase that targets proteins for degradation by the ubiquitin-proteasome system. Disruption of UBE3A activity in neurons impairs ubiquitination leading to accumulation of UBE3A-specific targets which results in neuronal dysfuncti

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Wawrzik, Michaela [Verfasser]. "Expressionsanalysen geprägter Gene in der Prader-Willi-Angelman-Syndrom-Region / vorgelegt von Michaela Wawrzik." 2009. http://d-nb.info/1000834867/34.

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Nazlican, Hülya [Verfasser]. "Somatische Mosaike und atypische Deletionen bei Patienten mit Prader-Willi- und Angelman-Syndrom / vorgelegt von Hülya Nazlican." 2006. http://d-nb.info/979031389/34.

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Klapos, Angela [Verfasser]. "Langzeitergebnisse nach operativer Dekompression des Sulcus-ulnaris-Syndroms : eine katamnestische Studie / Angela Klapos." 2002. http://d-nb.info/96548159X/34.

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