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A novel CUG(exp)·MBNL1 inhibitor with therapeutic potential for myotonic dystrophy type 1.
Jahromi, Amin Haghighat; Nguyen, Lien; Fu, Yuan; Miller, Kali A; Baranger, Anne M; Zimmerman, Steven C.
Afiliación
  • Jahromi AH; Center for Biophysics and Computational Biology, University of Illinois, Urbana, IL, USA.
ACS Chem Biol ; 8(5): 1037-43, 2013 May 17.
Article en En | MEDLINE | ID: mdl-23480597
Myotonic dystrophy type 1 (DM1) is caused by an expanded CUG repeat (CUG(exp)) that sequesters muscleblind-like 1 protein (MBNL1), a protein that regulates alternative splicing. CUG(exp) RNA is a validated drug target for this currently untreatable disease. Herein, we develop a bioactive small molecule (1) that targets CUG(exp) RNA and is able to inhibit the CUG(exp)·MBNL1 interaction in cells that model DM1. The core of this small molecule is based on ligand 2, which was previously reported to be active in an in vitro assay. A polyamine-derivative side chain was conjugated to this core to make it aqueous-soluble and cell-penetrable. In a DM1 cell model this conjugate was found to disperse CUG(exp) ribonuclear foci, release MBNL1, and partially reverse the mis-splicing of the insulin receptor pre-mRNA. Direct evidence for ribonuclear foci dispersion by this ligand was obtained in a live DM1 cell model using time-lapse confocal microscopy.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Expansión de Repetición de Trinucleótido / Distrofia Miotónica Límite: Humans Idioma: En Revista: ACS Chem Biol Año: 2013 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Expansión de Repetición de Trinucleótido / Distrofia Miotónica Límite: Humans Idioma: En Revista: ACS Chem Biol Año: 2013 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos