Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
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.
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2018
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/cc1752fb9d394b0fb636e7fca670afcc |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:cc1752fb9d394b0fb636e7fca670afcc |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:cc1752fb9d394b0fb636e7fca670afcc2021-12-02T16:56:56ZTargeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes10.1038/s41467-018-04110-12041-1723https://doaj.org/article/cc1752fb9d394b0fb636e7fca670afcc2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04110-1https://doaj.org/toc/2041-1723Spinal 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.Amparo Garcia-LopezFrancesca TessaroHendrik R. A. JonkerAnna WackerChristian RichterArnaud ComteNikolaos BerntenisRoland SchmuckiKlas HatjeOlivier PetermannGianpaolo ChirianoRemo PerozzoDaniel SciarraPiotr KoniecznyIgnacio FaustinoGuy FournetModesto OrozcoRuben ArteroFriedrich MetzgerMartin EbelingPeter GoekjianBenoît JosephHarald SchwalbeLeonardo ScapozzaNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-12 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Amparo Garcia-Lopez |
| title |
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| title_short |
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| title_full |
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| title_fullStr |
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| title_full_unstemmed |
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes |
| title_sort |
targeting rna structure in smn2 reverses spinal muscular atrophy molecular phenotypes |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/cc1752fb9d394b0fb636e7fca670afcc |
| work_keys_str_mv |
AT amparogarcialopez targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT francescatessaro targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT hendrikrajonker targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT annawacker targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT christianrichter targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT arnaudcomte targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT nikolaosberntenis targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT rolandschmucki targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT klashatje targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT olivierpetermann targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT gianpaolochiriano targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT remoperozzo targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT danielsciarra targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT piotrkonieczny targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT ignaciofaustino targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT guyfournet targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT modestoorozco targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT rubenartero targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT friedrichmetzger targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT martinebeling targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT petergoekjian targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT benoitjoseph targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT haraldschwalbe targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes AT leonardoscapozza targetingrnastructureinsmn2reversesspinalmuscularatrophymolecularphenotypes |
| _version_ |
1718382707346505728 |