Nature Communications (May 2018)
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
- 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
Affiliations
- Amparo Garcia-Lopez
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Francesca Tessaro
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Hendrik R. A. Jonker
- Institut für Organische Chemie und Chemische Biologie, Center for Biomolecular Magnetic Resonance (BMRZ), Johann Wolfgang Goethe-University Frankfurt
- Anna Wacker
- Institut für Organische Chemie und Chemische Biologie, Center for Biomolecular Magnetic Resonance (BMRZ), Johann Wolfgang Goethe-University Frankfurt
- Christian Richter
- Institut für Organische Chemie und Chemische Biologie, Center for Biomolecular Magnetic Resonance (BMRZ), Johann Wolfgang Goethe-University Frankfurt
- Arnaud Comte
- Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS), UMR CNRS 5246, University Claude Bernard Lyon 1
- Nikolaos Berntenis
- Pharmaceutical Research and Early Development, F. Hoffmann-La Roche
- Roland Schmucki
- Pharmaceutical Research and Early Development, F. Hoffmann-La Roche
- Klas Hatje
- Pharmaceutical Research and Early Development, F. Hoffmann-La Roche
- Olivier Petermann
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Gianpaolo Chiriano
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Remo Perozzo
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Daniel Sciarra
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- Piotr Konieczny
- Translational Genomics Group, Incliva Health Research Institute
- Ignacio Faustino
- Institute for Research in Biomedicine (IRB), Barcelona Institute of Science and Technology (BIST), Joint BSC-IRB Research Program in Computational Biology
- Guy Fournet
- Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS), UMR CNRS 5246, University Claude Bernard Lyon 1
- Modesto Orozco
- Institute for Research in Biomedicine (IRB), Barcelona Institute of Science and Technology (BIST), Joint BSC-IRB Research Program in Computational Biology
- Ruben Artero
- Translational Genomics Group, Incliva Health Research Institute
- Friedrich Metzger
- Pharmaceutical Research and Early Development, F. Hoffmann-La Roche
- Martin Ebeling
- Pharmaceutical Research and Early Development, F. Hoffmann-La Roche
- Peter Goekjian
- Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS), UMR CNRS 5246, University Claude Bernard Lyon 1
- Benoît Joseph
- Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS), UMR CNRS 5246, University Claude Bernard Lyon 1
- Harald Schwalbe
- Institut für Organische Chemie und Chemische Biologie, Center for Biomolecular Magnetic Resonance (BMRZ), Johann Wolfgang Goethe-University Frankfurt
- Leonardo Scapozza
- Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne and University of Geneva
- DOI
- https://doi.org/10.1038/s41467-018-04110-1
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 12
Abstract
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 and acts as a modulator of SMN exon 7 splicing.
