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Impaired glucose tolerance in a mouse model of sidt2 deficiency

PloS one, 2013-06, Vol.8 (6), p.e66139-e66139

2013

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

The Journal of biological chemistry, 2009-08, Vol.284 (35), p.23502-23516

2009

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NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders

PloS one, 2016-09, Vol.11 (9), p.e0162145-e0162145

2016

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Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

Journal of medicinal chemistry, 2012-03, Vol.55 (6), p.2737-2745

2012

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Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

Science (American Association for the Advancement of Science), 2004-01, Vol.303 (5657), p.523-527

2004

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A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

Molecular & cellular proteomics, 2005-02, Vol.4 (2), p.133-143

2005

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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Acta neuropathologica, 2013-03, Vol.125 (3), p.439-457

2013

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Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

The Journal of biological chemistry, 2007-03, Vol.282 (12), p.9150-9161

2007

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pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

The FEBS journal, 2010-04, Vol.277 (7), p.1618-1638

2010

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Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Human gene therapy, 2016-07, Vol.27 (7), p.509-521

2016

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Liquid chromatography/electrospray ionisation–tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma

Analytical biochemistry, 2014-08, Vol.458, p.20-26

2014

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The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes

Biochemical and biophysical research communications, 2006-06, Vol.344 (4), p.1186-1191

2006

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Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

Journal of molecular biology, 2006-06, Vol.359 (4), p.913-929

2006

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Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.323-329

2012

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Synthesis of 1,5-Dideoxy-1,5-iminoribitol C‑Glycosides through a Nitrone–Olefin Cycloaddition Domino Strategy: Identification of Pharmacological Chaperones of Mutant Human Lysosomal β‑Galactosidase

Journal of organic chemistry, 2014-05, Vol.79 (10), p.4398-4404

2014

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In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside

PloS one, 2013-03, Vol.8 (3), p.e57908

2013

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Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Angewandte Chemie International Edition, 2011-10, Vol.50 (44), p.10381-10383

International ed. in English, 2011

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Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.203-212

2012

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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Molecular genetics and metabolism, 2011-01, Vol.102 (1), p.6-12

2011

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Isofagomine Induced Stabilization of Glucocerebrosidase

Chembiochem : a European journal of chemical biology, 2008-11, Vol.9 (16), p.2643-2649

2008

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Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane

The Journal of biological chemistry, 2003-07, Vol.278 (29), p.26687-26694

2003

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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

Pediatrics (Evanston), 2006-11, Vol.118 (5), p.e1550-e1562

2006

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Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone

Journal of medicinal chemistry, 2011-03, Vol.54 (5), p.1421-1429

2011

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Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease

Journal of molecular biology, 2003-04, Vol.327 (5), p.1093-1109

2003

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Impaired glucose tolerance in a mouse model of sidt2 deficiency

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders

Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Liquid chromatography/electrospray ionisation–tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma

The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

Synthesis of 1,5-Dideoxy-1,5-iminoribitol C‑Glycosides through a Nitrone–Olefin Cycloaddition Domino Strategy: Identification of Pharmacological Chaperones of Mutant Human Lysosomal β‑Galactosidase

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside

Tailoring the Specificity and Reactivity of a Mechanism-Based Inactivator of Glucocerebrosidase for Potential Therapeutic Applications

Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

Isofagomine Induced Stabilization of Glucocerebrosidase

Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

Crystal Structure of β-Hexosaminidase B in Complex with Pyrimethamine, a Potential Pharmacological Chaperone

Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

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