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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2013-07

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Abstract

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.

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10.1016/j.ymgme.2013.05.004

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Yi, Haiqing, Keri B Fredrickson, Stuti Das, Priya S Kishnani and Baodong Sun (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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Sun

Baodong Sun

Associate Professor in 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 studies include protein/enzyme therapy, AAV-mediated gene therapy, and substrate reduction therapy with small molecule drugs.


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