Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

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

Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

Autor: Guy Fournet, Remo Perozzo, Gianpaolo Chiriano, Martin Ebeling, Modesto Orozco, Hendrik R. A. Jonker, Francesca Tessaro, Piotr Konieczny, Olivier Petermann, Ignacio Faustino, Roland Schmucki, Benoît. Joseph, Leonardo Scapozza, Christian Richter, Peter G. Goekjian, Friedrich Metzger, Daniel Sciarra, Amparo Garcia-Lopez, Nikolaos Berntenis, Harald Schwalbe, Ruben Artero, Klas Hatje, Anna Wacker, Arnaud Comte

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
García López, Amparo Tessaro, Francesca Jonker, Hendrik R.A. Wacker, Anna Richter, Christian Comte, Arnaud Berntenis, Nikolaos Schmucki, Roland Hatje, Klas Petermann, Olivier Chiriano, Gianpaolo Perozzo, Remo Sciarra, Daniel Konieczny, Piotr Faustino, Ignacio Fournet, Guy Orozco, Modesto Artero Allepuz, Rubén D. Metzger, Friedrich Ebeling, Martin Goekjian, Peter Benoît, Joseph Schwalbe, Harald Scapozza, Leonardo 2018 Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes Nature Communications 9 2032
Nature Communications, Nature Publishing Group, 2018, 9 (1), ⟨10.1038/s41467-018-04110-1⟩
Recercat. Dipósit de la Recerca de Catalunya
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Communications, 9:2032. Nature Publishing Group
RODERIC. Repositorio Institucional de la Universitat de Valéncia

Modification of SMN2 exon 7 (E7) splicing is a validated therapeutic strategy against spinal muscular atrophy (SMA). However, a target-based approach to identify small-molecule E7 splicing modifiers has not been attempted, which could reveal novel th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8d03b169990e5292eae41f740ba6e9
https://doaj.org/article/cc1752fb9d394b0fb636e7fca670afcc

Towards a comprehensive proteome of normal and malignant human colon tissue by 2-D-LC-ESI-MS and 2-DE proteomics and identification of S100A12 as potential cancer biomarker

Autor: Nikolaos Berntenis, Siegbert Rossol, Marie-Luise Hagmann, Johann Karl, Norbert Wild, Markus Roeßler, Stefan Palme, Heinz Bodenmüller, Helmut Friess, Michael Tacke, Michael Thierolf, Axel Eickhoff, Josef Rüschoff, Hanno Langen, Werner Zolg, Wolfgang Rösch, Michael Pfeffer, Gerhard Rohr, Karl-Walter Jauch

Publikováno v: Proteomics. Clinical applications. 2(1)

The aim of this study was to characterize the proteome of normal and malignant colonic tissue. We previously studied the colon proteome using 2-DE and MALDI-MS and identified 734 proteins (Roesler, M., Rollinger, W., Palme S., Hagmann, M.-L., et al..

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdc2553a52fbbaa7dfd5e08b491b0b7d
https://pubmed.ncbi.nlm.nih.gov/21136775