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Glycogen Storage Disease Type IIb

Known as: Vacuolar Cardiomyopathy and Myopathy, X-linked, ANTOPOL DISEASE, LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY 
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Cellular sensing of amino acids occurs at the lysosome and is mediated by the vacuolar proton pump. The mTOR complex 1 (mTORC1… Expand
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Highly Cited
2010
Highly Cited
2010
Of Wnt, Prorenin Receptor, and V-ATPase The Wnt protein binds to receptors at the cell surface and regulates signaling pathways… Expand
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Highly Cited
2006
Highly Cited
2006
Polarized intracellular trafficking in epithelia is critical in development, immunity, and physiology to deliver morphogens… Expand
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Review
2003
Review
2003
It has recently become clear that lysosomes have more complex functions than simply being the end-point on a degradative pathway… Expand
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Highly Cited
2003
Highly Cited
2003
Background—Mutations in the &ggr;2 subunit (PRKAG2) of AMP-activated protein kinase produce an unusual human cardiomyopathy… Expand
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Highly Cited
2000
Highly Cited
2000
“Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon et al., is characterized… Expand
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Highly Cited
1999
Highly Cited
1999
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited… Expand
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Review
1999
Review
1999
The vacuolar H+-ATPase (V-ATPase) is one of the most fundamental enzymes in nature. It functions in almost every eukaryotic cell… Expand
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Highly Cited
1989
Highly Cited
1989
Active transport across the vacuolar components of the eukaryotic endomembrane system is energized by a specific vacuolar H… Expand
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Highly Cited
1988
Highly Cited
1988
Yeast vacuole protein targeting (vpt) mutants exhibit defects in the sorting and processing of multiple vacuolar hydrolases. To… Expand
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