Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Manuel Perez-Alonso"'
Autor:
Anna Rapisarda, Ariadna Bargiela, Beatriz Llamusi, Isabel Pont, Roger Estrada-Tejedor, Enrique Garcia-España, Ruben Artero, Manuel Perez-Alonso
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract In Myotonic Dystrophy type 1 (DM1), a non-coding CTG repeats rare expansion disease; toxic double-stranded RNA hairpins sequester the RNA-binding proteins Muscleblind-like 1 and 2 (MBNL1 and 2) and trigger other DM1-related pathogenesis path
Externí odkaz:
https://doaj.org/article/0dbedd9c52a24137b9ee035f7dd3ec6c
Autor:
Estefania Cerro-Herreros, Maria Sabater-Arcis, Juan M. Fernandez-Costa, Nerea Moreno, Manuel Perez-Alonso, Beatriz Llamusi, Ruben Artero
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Depletion of the splicing factors MBNL 1 and 2 causes myotonic dystrophy. Here, the authors show that miR-23b and miR-218 target MBNL proteins, and that antagonists to these miRNAs rescue mis-splicing events in myoblasts and boost MBNL expression and
Externí odkaz:
https://doaj.org/article/715ef215d4ed408da2bed0dd25f82d03
Autor:
Juan M Fernandez-Costa, Beatriz Llamusi, Ariadna Bargiela, Miren Zulaica, M Carmen Alvarez-Abril, Manuel Perez-Alonso, Adolfo Lopez de Munain, Arturo Lopez-Castel, Ruben Artero
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0150501 (2016)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinuc
Externí odkaz:
https://doaj.org/article/f57dc728cec047fba9b99431284d0df9
Autor:
Ariadna Bargiela, Amadeo Ten-Esteve, Luis Martí-Bonmatí, Teresa Sevilla, Manuel Perez Alonso, Ruben Artero
Publikováno v:
Scientific Reports. 13
Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to overall mortality and morbidity. DM1 stems from a noncoding CTG trinucleotide repeat expansion in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10b3d2d88004ebc39158e60bb20041d0
https://doi.org/10.1038/s41598-023-27661-w
https://doi.org/10.1038/s41598-023-27661-w
Autor:
Ariadna Bargiela, Ruben Artero, Roger Estrada-Tejedor, Anna Rapisarda, Enrique Garcia-España, Beatriz Llamusi, Manuel Perez-Alonso, Isabel Pont
In Myotonic Dystrophy type 1 (DM1), a non-coding CTG repeats rare expansion disease; toxic double-stranded RNA hairpins sequester the RNA-binding proteins Muscleblind-like 1 and 2 (MBNL1 and 2) and trigger other DM1-related pathogenesis pathway defec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b630c99bf1b8d2094b3af6a75b01ca1
https://doi.org/10.21203/rs.3.rs-124856/v1
https://doi.org/10.21203/rs.3.rs-124856/v1
Autor:
Sarah J. Overby, Estefanía Cerro-Herreros, Irene González-Martínez, Miguel A. Varela, David Seoane-Miraz, Yahya Jad, Richard Raz, Thorleif Møller, Manuel Pérez-Alonso, Matthew J. Wood, Beatriz Llamusí, Rubén Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 1146-1155 (2022)
Myotonic dystrophy type 1 is a debilitating neuromuscular disease causing muscle weakness, myotonia, and cardiac dysfunction. The phenotypes are caused by muscleblind-like (MBNL) protein sequestration by toxic RNA in the DM1 protein kinase (DMPK) gen
Externí odkaz:
https://doaj.org/article/83c3274632db47e987f7a53bbf571513
Autor:
Estefanía Cerro-Herreros, Irene González-Martínez, Nerea Moreno, Jorge Espinosa-Espinosa, Juan M. Fernández-Costa, Anna Colom-Rodrigo, Sarah J. Overby, David Seoane-Miraz, Javier Poyatos-García, Juan J. Vilchez, Adolfo López de Munain, Miguel A. Varela, Matthew J. Wood, Manuel Pérez-Alonso, Beatriz Llamusí, Rubén Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 174-191 (2021)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ribonuclear foci. Depletion of
Externí odkaz:
https://doaj.org/article/fcb1590ef3cd430fb37c123264dbacdc
Autor:
Sarah J. Overby, Estefanía Cerro-Herreros, Jorge Espinosa-Espinosa, Irene González-Martínez, Nerea Moreno, Juan M. Fernández-Costa, Jordina Balaguer-Trias, Javier Ramón-Azcón, Manuel Pérez-Alonso, Thorleif Møller, Beatriz Llamusí, Rubén Artero
Publikováno v:
Pharmaceutics, Vol 15, Iss 4, p 1118 (2023)
The symptoms of Myotonic Dystrophy Type 1 (DM1) are multi-systemic and life-threatening. The neuromuscular disorder is rooted in a non-coding CTG microsatellite expansion in the DM1 protein kinase (DMPK) gene that, upon transcription, physically sequ
Externí odkaz:
https://doaj.org/article/be55b06f313a4cae89e8d095150793a6
Autor:
Raul Ondono, Ángel Lirio, Carlos Elvira, Elena Álvarez-Marimon, Claudia Provenzano, Beatrice Cardinali, Manuel Pérez-Alonso, Alex Perálvarez-Marín, José I. Borrell, Germana Falcone, Roger Estrada-Tejedor
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 51-61 (2021)
Myotonic Dystrophy type 1 (DM1) is an incurable neuromuscular disorder caused by toxic DMPK transcripts that carry CUG repeat expansions in the 3′ untranslated region (3′UTR). The intrinsic complexity and lack of crystallographic data makes nonco
Externí odkaz:
https://doaj.org/article/efbf11350f5644d1ab15cf644e6b5d93
Autor:
Estefanía Cerro-Herreros, Irene González-Martínez, Nerea Moreno-Cervera, Sarah Overby, Manuel Pérez-Alonso, Beatriz Llamusí, Rubén Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 837-849 (2020)
Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcr
Externí odkaz:
https://doaj.org/article/98c3e3ab96d644c090dc4cf83480c634