Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
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Previous studies strongly suggest that starch binding domain containing protein 1 (Stbd1) plays an important role in intracellular glycogen trafficking into lysosomes. We report here that Stbd1 expression is markedly increased in skeletal muscles but not in heart and liver of GAA-KO mice. An AAV2/9 vector expressing a Stbd1-specific shRNA effectively suppressed Stbd1 expression but did not alter lysosomal glycogen accumulation in the affected tissues of GAA-KO mice. Our results indicate that inhibition of Stbd1 does not appear to be an effective therapeutic approach for Pompe disease.
Disease Models, Animal
Gene Expression Regulation
Gene Knockdown Techniques
Glycogen Storage Disease Type II
Published Version (Please cite this version)10.1016/j.ymgme.2013.05.004
Publication InfoDas, S; Fredrickson, Keri B; Kishnani, Priya Sunil; Sun, Baodong; & Yi, Haiqing (2013). Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation. Mol Genet Metab, 109(3). pp. 312-314. 10.1016/j.ymgme.2013.05.004. Retrieved from https://hdl.handle.net/10161/15085.
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Chen Family Distinguished Professor of Pediatrics
RESEARCH INTERESTS A multidisciplinary approach to care of individuals with genetic disorders in conjunction with clinical and bench research that contributes to: 1) An understanding of the natural history and delineation of long term complications of genetic disorders 2) The development of new therapies for genetic disorders through translational research 3) The development and execution of large multicenter trials to confirm safety and efficacy of potential th
Associate Professor of Pediatrics
My overall research interests are finding effective treatment for human glycogen storage diseases (GSDs) and other inherited metabolic disorders. My current research focuses on identification of novel therapeutic targets and development of effective therapies for GSD II (Pompe disease), GSD III (Cori disease), and GSD IV (Andersen disease) using cellular and animal disease models. The main therapeutic approaches we are using in our pre-clinical studie
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