Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Ruben Artero"'
Autor:
Nerea Moreno, Maria Sabater-Arcis, Teresa Sevilla, Manuel Perez Alonso, Jessica Ohana, Ariadna Bargiela, Ruben Artero
Publikováno v:
Biological Research, Vol 57, Iss 1, Pp 1-17 (2024)
Abstract Background We recently reported that upregulation of Musashi 2 (MSI2) protein in the rare neuromuscular disease myotonic dystrophy type 1 contributes to the hyperactivation of the muscle catabolic processes autophagy and UPS through a reduct
Externí odkaz:
https://doaj.org/article/90b2edade99644b7abd7de2526c613a2
Autor:
Maria Sabater-Arcis, Nerea Moreno, Teresa Sevilla, Manuel Perez Alonso, Ariadna Bargiela, Ruben Artero
Publikováno v:
Biomedical Journal, Vol 47, Iss 4, Pp 100667- (2024)
Background: Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by a CTG repeat expansion in the 3′ untranslated region of the DM1 protein kinase gene. Characteristic degenerative muscle symptoms include myotonia, atrophy, and we
Externí odkaz:
https://doaj.org/article/78d72059b0494fd2a388ec01c485a21f
Autor:
Sheeza Mughal, Maria Sabater-Arcis, Ruben Artero, Javier Ramón-Azcón, Juan M. Fernández-Costa
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 4 (2024)
Externí odkaz:
https://doaj.org/article/9ee84af3b7c445c4ae068a0ad9e849f4
Autor:
Javier Poyatos-García, Águeda Blázquez-Bernal, Marta Selva-Giménez, Ariadna Bargiela, Jorge Espinosa-Espinosa, Rafael P. Vázquez-Manrique, Anne Bigot, Ruben Artero, Juan Jesús Vilchez
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 324-338 (2023)
A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1 (HIV-1) infection, causes the ultrarare autosomal dominant disease limb-girdle muscular dystroph
Externí odkaz:
https://doaj.org/article/9a5a3e8ee08b4db28d543fbdc27b55f7
Autor:
Ariadna Bargiela, Amadeo Ten-Esteve, Luis Martí-Bonmatí, Teresa Sevilla, Manuel Perez Alonso, Ruben Artero
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract 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 expans
Externí odkaz:
https://doaj.org/article/b9aafc6c3136457396120ee9219bff78
Autor:
Maria Sabater-Arcis, Ariadna Bargiela, Nerea Moreno, Javier Poyatos-Garcia, Juan J. Vilchez, Ruben Artero
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 652-667 (2021)
Skeletal muscle symptoms strongly contribute to mortality of myotonic dystrophy type 1 (DM1) patients. DM1 is a neuromuscular genetic disease caused by CTG repeat expansions that, upon transcription, sequester the Muscleblind-like family of proteins
Externí odkaz:
https://doaj.org/article/a4afb6946f544312a3ac309996985fde
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:
Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Myotonic dystrophy (DM) type 2 is a neuromuscular pathology caused by large expansions of CCTG repeats. Here the authors find that rbFOX1 RNA binding protein binds to CCUG RNA repeats and competes with MBNL1 for the binding to CCUG repeats, releasing
Externí odkaz:
https://doaj.org/article/cc4a1e87ad4646d6a2914e7d2348f083
Autor:
Amparo Garcia-Lopez, Francesca Tessaro, Hendrik R. A. Jonker, Anna Wacker, Christian Richter, Arnaud Comte, Nikolaos Berntenis, Roland Schmucki, Klas Hatje, Olivier Petermann, Gianpaolo Chiriano, Remo Perozzo, Daniel Sciarra, Piotr Konieczny, Ignacio Faustino, Guy Fournet, Modesto Orozco, Ruben Artero, Friedrich Metzger, Martin Ebeling, Peter Goekjian, Benoît Joseph, Harald Schwalbe, Leonardo Scapozza
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with no present cure. Here the authors perform an in vitro screening leading to the identification of a small molecule that alters the conformational dynamics of the TSL2 RNA structure
Externí odkaz:
https://doaj.org/article/cc1752fb9d394b0fb636e7fca670afcc