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1-deoxy-galactonojirimycin

Known as: 1-deoxygalacto-nojirimycin, 1-deoxygalactonojirimycin 
 
National Institutes of Health

Related topics

Related topics

1 relation
migalastat

Papers overview

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Highly Cited
2012
Highly Cited
2012
Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice
Fabry disease is an X-linked lysosomal storage disorder (LSD) caused by mutations in the gene (GLA) that encodes the lysosomal… Expand
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Highly Cited
2011
Highly Cited
2011
Crystal Structure of Human β-Galactosidase
Background: Deficiencies in β-d-galactosidase cause lysosomal storage diseases. Results: This is the first report to describe the… Expand
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Highly Cited
2010
Highly Cited
2010
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in alpha-galactosidase A (alpha-Gal A) activity… Expand
Highly Cited
2009
Highly Cited
2009
The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines
SummaryFabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (α-Gal… Expand
Highly Cited
2007
Highly Cited
2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1…
Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order… Expand
Highly Cited
2006
Highly Cited
2006
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (alpha-Gal A) resulting in lysosomal… Expand
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Highly Cited
2005
Highly Cited
2005
Biological properties of D- and L-1-deoxyazasugars.
L-Enantiomers of 1-deoxynojirimycin (DNJ), 1-deoxymannojirimycin (manno-DNJ), 1-deoxyallonojirimycin (allo-DNJ), 1… Expand
Highly Cited
2005
Highly Cited
2005
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder
Mutations in proteins that induce misfolding and proteasomal degradation are common causes of inherited diseases. Fabry disease… Expand
Highly Cited
2003
Highly Cited
2003
Concise and highly stereocontrolled synthesis of 1-deoxygalactonojirimycin and its congeners using dioxanylpiperidene, a promising chiral building block.
[reaction: see text] A concise and stereoselective synthesis of the chiral building block, dioxanylpiperidene 4 as a precursor… Expand
Highly Cited
2000
Highly Cited
2000
In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.
Fabry disease is a lysosomal storage disorder caused by deficient lysosomal alpha-galactosidase A (alpha-Gal A) activity… Expand
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