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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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Review
2013
Review
2013
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease
Chaperone therapy is a newly developed molecular therapeutic approach to lysosomal diseases, a group of human genetic diseases… Expand
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2012
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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2012
2012
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associated with a neurodegenerative… Expand
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2010
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
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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
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Review
2009
Review
2009
Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.
  • D P Germain, J-Q Fan
  • International journal of clinical pharmacology…
  • 2009
    • Corpus ID: 45049727
Many genetic disorders are due to protein misfolding and excessive premature degradation in the endoplasmic reticulum (ER). When… Expand
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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
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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
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
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2002
2002
Functional expression of a cDNA encoding pea (Pisum sativum L.) raffinose synthase, partial purification of the enzyme from maturing seeds, and steady-state kinetic analysis of raffinose synthesis
Abstract. Raffinose (O-α-D-galactopyranosyl-(1→6)-O-α-D-glucopyranosyl-(1↔2)-O-β-D-fructofuranoside) is a widespread… Expand
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