Muscleblind Like Splicing Regulator 1 is an RNA splicing protein that in humans is encoded by the MBNL1 gene. It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function. From Wikipedia
Published in Nature Neuroscience, the research identifies RNA splicing disruptions caused by tandem repeat expansions in the DMPK gene as a shared mechanism driving autism traits and myotonic dystrophy type 1.
