Publications by authors named "Diego Piqueras Losilla"
Article Synopsis
- * DM1 happens because of a problem with a gene that leads to muscle issues by decreasing a protein called MBNL1. AntimiRs can help increase this protein but need to be made better for human use.
- * The treatment helped improve muscle cell problems and reduced harmful molecules in the cells, showing promise for helping different types of DM1 patients with varying genetic backgrounds.
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by a CTG repeat expansion in the gene that generates toxic RNA with a myriad of downstream alterations in RNA metabolism. A key consequence is the sequestration of alternative splicing regulatory proteins MBNL1/2 by expanded transcripts in the affected tissues. MBNL1/2 depletion interferes with a developmental alternative splicing switch that causes the expression of fetal isoforms in adults.
View Article and Find Full Text PDF