Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models [Genetics]

Myotonic dystrophy type 1 (DM1) is a life-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG trinucleotide repeat in the 3′ UTR of the DMPK gene. The mutant RNA forms insoluble structures capable of sequestering RNA binding proteins of the Muscleblind-like (MBNL) family, which ultimately leads...

http://www.pnas.org/content/116/50/25203.short?rss=1

Source: Proceedings of the National Academy of Sciences - December 9, 2019 Category: Science Authors: Ariadna Bargiela, Maria Sabater-Arcis, Jorge Espinosa-Espinosa, Miren Zulaica, Adolfo Lopez de Munain, Ruben Artero Tags: PNAS Plus Source Type: research