Article
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy.
Disease models & mechanisms - 1 Jun 2021
Hinman Melissa N, Richardson Jared I, Sockol Rose A, Aronson Eliza D, Stednitz Sarah J, Murray Katrina N, Berglund J Andrew, Guillemin Karen
Abstract excerpt
The muscleblind RNA-binding proteins (MBNL1, MBNL2 and MBNL3) are highly conserved across vertebrates and are important regulators of RNA alternative splicing. Loss of MBNL protein function through sequestration by CUG or CCUG RNA repeats is largely responsible for the phenotypes of the human genetic disorder myotonic dystrophy (DM). We generated the first stable zebrafish (Danio rerio) models of DM-associated...
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