title: Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation.
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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: Haiqing
authors.initials: H
authors.lastname: Yi
authors.forename: Keri B
authors.initials: KB
authors.lastname: Fredrickson
authors.forename: Stuti
authors.initials: S
authors.lastname: Das
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Baodong
authors.initials: B
authors.lastname: Sun
mesh_terms: D000818:Animals; D002460:Cell Line; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D055785:Gene Knockdown Techniques; D006003:Glycogen / Q000378:metabolism*; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008247:Lysosomes / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D051379:Mice; D018345:Mice, Knockout; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D034622:RNA Interference
chemical_list: D008565:Membrane Proteins; D009124:Muscle Proteins; C585769:starch-binding domain-containing protein 1, mouse; D006003:Glycogen