NIH R01 · 2024
Project Abstract Microsatellite repeat expansions are a growing family of 50+ neurological, neuromuscular, and neurodegenerative diseases that includes the most common cause of adult-onset muscular dystrophy (myotonic dystrophy, DM) and large group of rare neurodegenerative diseases spinocerebellar ataxias, SCAs). There are more than 40 genetically heterogeneous rare SCAs, with the most common forms associated with CAG repeat expansion mutations. Expression of these repeats leads to translation into toxic polyglutamine expansion proteins whose pathogenic role is not well understood. The Berglund and Shorrock groups have preliminary data that supports alternative splicing as a novel…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.