Výsledky vyhledávání - "Birgit Kagerbauer"

Akademický článek

A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity.

Autor: Mónica Bañez-Coronel, Silvia Porta, Birgit Kagerbauer, Elisabet Mateu-Huertas, Lorena Pantano, Isidre Ferrer, Manuel Guzmán, Xavier Estivill, Eulàlia Martí

Publikováno v: PLoS Genetics, Vol 8, Iss 2, p e1002481 (2012)

Huntington's disease (HD) is an autosomal dominantly inherited disorder caused by the expansion of CAG repeats in the Huntingtin (HTT) gene. The abnormally extended polyglutamine in the HTT protein encoded by the CAG repeats has toxic effects. Here,

Externí odkaz: https://doaj.org/article/fe11205db66d4bd1a89391f1759350fe

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Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels

Autor: Eulàlia Martí, M. Teresa Zomeño-Abellán, Rafael Alcalá-Vida, Laura Rué, Mónica Bañez-Coronel, Esther Pérez-Navarro, Zeus Aranda, Veronica Venturi, Xavier Estivill, Gartze Mentxaka, Birgit Kagerbauer, Albert Giralt, Jordi Creus-Muncunill

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
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Dipòsit Digital de la UB
Universidad de Barcelona

Huntington's disease (HD) is a polyglutamine disorder caused by a CAG expansion in the Huntingtin (HTT) gene exon 1. This expansion encodes a mutant protein whose abnormal function is traditionally associated with HD pathogenesis; however, recent evi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7711b520480bf26e7d9f0f14987539
https://doi.org/10.1172/jci83185

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Human microRNAs miR-22 miR-138-2 miR-148a and miR-488 Are Associated with Panic Disorder and Regulate Several Anxiety Candidate Genes and Related Pathways

Autor: Laura Kananen, Kristi Pettai, Tessa Sipilä, Ricard Navinés, Eduard Maron, Birgit Kagerbauer, Margarita Muiños-Gimeno, Xavier Estivill, Yolanda Espinosa-Parrilla, Iiris Hovatta, Mònica Gratacòs, Rocío Martín-Santos, Monica Guidi, Andres Metspalu

Publikováno v: Biological Psychiatry; Vol 69
Biological Psychiatry
Digital.CSIC. Repositorio Institucional del CSIC
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Disponible desde www.ncbi.nlm.nih.gov. -- Autores: Muiños-Gimeno, Margarita ... [et al.]
[Background] The involvement of microRNAs (miRNAs) in neuronal differentiation and synaptic plasticity suggests a role for miRNAs in psychiatric disorders;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d589c7b870d2e589890305f18938a5e

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Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia

Autor: Francesca Vivarelli, Mikel Urretavizcaya, José M. Menchón, Virginia Soria, José Manuel Crespo, Mònica Gratacòs, Birgit Kagerbauer, Ester Saus, Xavier Estivill, Geòrgia Escaramís

Publikováno v: Human Molecular Genetics. 19:4017-4025

Previous studies in mice have reported five different microRNAs (miRNAs; miR-219-1/132/183/96/182) to be modulators of the endogenous circadian clock and have presented experimental evidence for some of the genes involved in the molecular clock machi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34aba3523aa099e1c1f9e3cf9c357a35
https://doi.org/10.1093/hmg/ddq316

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Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

Autor: Margarita Muiños-Gimeno, Monica Guidi, Birgit Kagerbauer, Pino Alonso, José M. Menchón, Rocío Martín-Santos, Ricard Navinés, Mònica Gratacòs, Yolanda Espinosa-Parrilla, Xavier Estivill

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
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Genetic and functional data indicate that variation in the expression of the neurotrophin-3 receptor gene (NTRK3) may have an impact on neuronal plasticity, suggesting a role for NTRK3 in the pathophysiology of anxiety disorders. MicroRNA (miRNA) pos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7e5ab1b61fbf344388e2b88fcb462a
https://doi.org/10.1002/humu.21005

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MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

Autor: Xavier Estivill, Yolanda Espinosa-Parrilla, Sílvia Porta, Isidre Ferrer, Geòrgia Escaramís, Raquel Rabionet, Eulàlia Martí, Birgit Kagerbauer, Susana Iraola, Elena Miñones-Moyano

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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12 páginas, 5 figuras.-- Miñones-Moyano, Elena et al.
MicroRNAs (miRNAs) are post-transcriptional gene expression regulators, playing key roles in neuronal development, plasticity and disease. Parkinson's disease (PD) is the second most common

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42cc3f07fe94526f05ccaccf3d602a0b
https://pubmed.ncbi.nlm.nih.gov/21558425

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Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells

Autor: Xavier Estivill, Monica Guidi, Margarita Muiños-Gimeno, Eulàlia Martí, Birgit Kagerbauer, Yolanda Espinosa-Parrilla

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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BMC Molecular Biology
BMC Molecular Biology, Vol 11, Iss 1, p 95 (2010)

17 páginas, 9 figuras, 5 tablas.
[Background]: Neurotrophins and their receptors are key molecules in the regulation of neuronal differentiation and survival. They mediate the survival of neurons during development and adulthood and are implica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6bc886bd7f693e5cbad64a22ea3b97
http://hdl.handle.net/10261/33482

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Differential methylation pattern of the X-linked lymphoproliferative (XLP) disease gene SH2D1A correlates with the cell lineage-specific transcription

Autor: Birgit Kagerbauer, Joachim Sassmann, Ornella Parolini, Oskar A. Haas, Andreas Weinhäusel, Walter Knapp, Wolfgang Holter, Helmut Gadner

Publikováno v: Immunogenetics. 55(2)

SH2D1A, the X-linked lymphoproliferative disease (XLP) gene, encodes a cytoplasmic protein that plays an essential role in controlling Epstein-Barr virus infection. It is expressed in T and NK cells, but not in B cells or in granulocytes. The promote

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7ea8b89b9f10c94320311cbb0bd0c5f
https://pubmed.ncbi.nlm.nih.gov/12709835

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Evidence for the biogenesis of more than 1,000 novel human microRNAs

Autor: Anna J.S. Houben, Mónica Bañez-Coronel, Emily M LeProust, Justo González, Birgit Kagerbauer, Eulàlia Martí, Grzegorz Kudla, Kevin Chen, Xavier Estivill, Daniela Bezdan, Marc R. Friedländer, Esther Lizano, Elisabet Mateu-Huertas

Publikováno v: Genome Biology
Friedländer, M R, Lizano, E, Houben, A J, Bezdan, D, Báñez-Coronel, M, Kudla, G, Mateu-Huertas, E, Kagerbauer, B, González, J, Chen, K C, Leproust, E M, Martí, E & Estivill, X 2014, ' Evidence for the biogenesis of more than 1,000 novel human microRNAs ', Genome Biology, vol. 15, no. 4, pp. R57 . https://doi.org/10.1186/gb-2014-15-4-r57

Background: MicroRNAs (miRNAs) are established regulators of development, cell identity and disease. Although nearly two thousand human miRNA genes are known and new ones are continuously discovered, no attempt has been made to gauge the total miRNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfbdeb4f8bbf6be7c294ada721654af6
https://doi.org/10.1186/gb-2014-15-4-r57

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A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity

Autor: Eulàlia Martí, Lorena Pantano, Mónica Bañez-Coronel, Birgit Kagerbauer, Isidre Ferrer, Manuel Guzmán, Elisabet Mateu-Huertas, Xavier Estivill, Sílvia Porta

Publikováno v: Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS Genetics, Vol 8, Iss 2, p e1002481 (2012)
PLoS Genetics
Dipòsit Digital de la UB
Universidad de Barcelona

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35143f4bdd007e52a8a0df5656a40a2
http://hdl.handle.net/2445/49112

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