An engineered RNA binding protein with improved splicing regulation
Sign Up to like & getrecommendations! Published in 2018 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkx1304
Abstract: Abstract The muscleblind-like (MBNL) family of proteins are key developmental regulators of alternative splicing. Sequestration of MBNL proteins by expanded CUG/CCUG repeat RNA transcripts is a major pathogenic mechanism in the neuromuscular disorder myotonic dystrophy… read more here.
Keywords: protein; mbnl; rna binding; activity ... See more keywords
BlockmiR AONs as Site-Specific Therapeutic MBNL Modulation in Myotonic Dystrophy 2D and 3D Muscle Cells and HSALR Mice
Sign Up to like & getrecommendations! Published in 2023 at "Pharmaceutics"
DOI: 10.3390/pharmaceutics15041118
Abstract: The symptoms of Myotonic Dystrophy Type 1 (DM1) are multi-systemic and life-threatening. The neuromuscular disorder is rooted in a non-coding CTG microsatellite expansion in the DM1 protein kinase (DMPK) gene that, upon transcription, physically sequesters… read more here.
Keywords: muscle cells; mbnl; muscle; myotonic dystrophy ... See more keywords