Article
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.
Proceedings of the National Academy of Sciences of the United States of America - 10 Dec 2019
Bargiela Ariadna, Sabater-Arcis Maria, Espinosa-Espinosa Jorge, Zulaica Miren, Lopez de Munain Adolfo, Artero Ruben
Abstract excerpt
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 to phenotypes. In this work, we demonstrate that treatment with the...
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