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.
Type
Journal articleSubject
AnimalsCell Line
Disease Models, Animal
Gene Expression Regulation
Gene Knockdown Techniques
Glycogen
Glycogen Storage Disease Type II
Humans
Lysosomes
Membrane Proteins
Mice
Mice, Knockout
Muscle Proteins
Muscle, Skeletal
RNA Interference
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https://hdl.handle.net/10161/15085Published Version (Please cite this version)
10.1016/j.ymgme.2013.05.004Publication Info
(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.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Priya Sunil Kishnani
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
Baodong Sun
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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