Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses

Roscoe O. Brady: Physician whose pioneering discoveries in lipid biochemistry revolutionized treatment and understanding of lysosomal diseases

(2018) Johannes M. Aerts et al.   BLOOD CELLS MOLECULES AND DISEASES

Degradation of glycosphingolipids in oyster: ceramide glycanase and ceramidase in the hepatopancreas of oyster, Crassostrea virginica

(2017) Nadejda V. Pavlova et al.   GLYCOCONJUGATE JOURNAL

Structural Insights into the Broad Substrate Specificity of a Novel Endoglycoceramidase I Belonging to a New Subfamily of GH5 Glycosidases

(2017) Yun-Bin Han et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Fluorescence Polarization Activity-Based Protein Profiling Assay in the Discovery of Potent, Selective Inhibitors for Human Nonlysosomal Glucosylceramidase

(2017) Daniël Lahav et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Activity-based probes for functional interrogation of retaining β-glucuronidases

(2017) Liang Wu et al.   Nature Chemical Biology

1,6-Cyclophellitol Cyclosulfates: A New Class of Irreversible Glycosidase Inhibitor

(2017) Marta Artola et al.   ACS Central Science

Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2)

(2016) Ratana Charoenwattanasatien et al.   ACS Chemical Biology

Advances in Enzymatic Glycoside Synthesis

(2016) Phillip M. Danby et al.   ACS Chemical Biology

Carbohydrate-active enzymes: sequences, shapes, contortions and cells

(2016) G. J. Davies et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Hydrophobic Interactions Contribute to Conformational Stabilization of Endoglycoceramidase II by Mechanism-Based Probes

(2016) Fredj Ben Bdira et al.   BIOCHEMISTRY

Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease

(2016) Eugénie Laigre et al.   CARBOHYDRATE RESEARCH

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

(2016) André R. A. Marques et al.   JOURNAL OF LIPID RESEARCH

Delineating pathological pathways in a chemically induced mouse model of Gaucher disease

(2016) Ayelet Vardi et al.   JOURNAL OF PATHOLOGY

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders

(2016) Maria J. Ferraz et al.   MOLECULAR GENETICS AND METABOLISM

Detection of Active Mammalian GH31 α-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes

(2016) Jianbing Jiang et al.   ACS Central Science

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C

(2015) James M. Gruschus et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

(2015) Saki Sultana et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The effects of chemically synthesized saposin C on glucosylceramide-β-glucosidase

(2015) Azusa Yoneshige et al.   CLINICAL BIOCHEMISTRY

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

(2015) Daliya Kancheva et al.   GENETICS IN MEDICINE

Ergosteryl-β-glucosidase (Egh1) involved in sterylglucoside catabolism and vacuole formation inSaccharomyces cerevisiae

(2015) Takashi Watanabe et al.   GLYCOBIOLOGY

Reaction Mechanisms in Carbohydrate-Active Enzymes: Glycoside Hydrolases and Glycosyltransferases. Insights from ab Initio Quantum Mechanics/Molecular Mechanics Dynamic Simulations

(2015) Albert Ardèvol et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

In vitro and in vivo comparative and competitive activity-based protein profiling of GH29 α-l-fucosidases

(2015) Jianbing Jiang et al.   Chemical Science

Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics

(2015) Diana Raju et al.   PLoS Genetics

Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes

(2015) Daniela Herrera Moro Chao et al.   PLoS One

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice

(2015) André R. A. Marques et al.   PLoS One

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert et al.   BRAIN

From Covalent Glycosidase Inhibitors to Activity-Based Glycosidase Probes

(2014) Lianne I. Willems et al.   CHEMISTRY-A EUROPEAN JOURNAL

Dissecting conformational contributions to glycosidase catalysis and inhibition

(2014) Gaetano Speciale et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Synthesis of α- and β-Galactopyranose-Configured Isomers of Cyclophellitol and Cyclophellitol Aziridine

(2014) Lianne I. Willems et al.   EUROPEAN JOURNAL OF ORGANIC CHEMISTRY

Sterylglucoside Catabolism inCryptococcus neoformanswith Endoglycoceramidase-related Protein 2 (EGCrP2), the First Steryl-β-glucosidase Identified in Fungi

(2014) Takashi Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Sensitive Gel-based Method Combining Distinct Cyclophellitol-based Probes for the Identification of Acid/Base Residues in Human Retaining β-Glucosidases

(2014) Wouter W. Kallemeijn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification and Development of Biphenyl Substituted Iminosugars as Improved Dual Glucosylceramide Synthase/Neutral Glucosylceramidase Inhibitors

(2014) Amar T. Ghisaidoobe et al.   JOURNAL OF MEDICINAL CHEMISTRY

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

(2014) Pramod K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1

(2013) Hisako Akiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses

(2013) Maria J. Ferraz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

(2013) Robert E. Boyd et al.   JOURNAL OF MEDICINAL CHEMISTRY

Structural snapshots illustrate the catalytic cycle of  -galactocerebrosidase, the defective enzyme in Krabbe disease

(2013) C. H. Hill et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel Activity-Based Probes for Broad-Spectrum Profiling of Retaining β-Exoglucosidases In Situ and In Vivo

(2012) Wouter W. Kallemeijn et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Evolution, substrate specificity and subfamily classification of glycoside hydrolase family 5 (GH5)

(2012) Henrik Aspeborg et al.   BMC EVOLUTIONARY BIOLOGY

Characterization of the N370S Mutant of Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

(2012) Liangjie Tang et al.   CHEMBIOCHEM

The Non-lysosomal β-Glucosidase GBA2 Is a Non-integral Membrane-associated Protein at the Endoplasmic Reticulum (ER) and Golgi

(2012) Heinz G. Körschen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Correction of Liver Steatosis by a Hydrophobic Iminosugar Modulating Glycosphingolipids Metabolism

(2012) Elisa Lombardo et al.   PLoS One

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

(2011) A. Zimran et al.   BLOOD

Glycosphingolipid synthesis employing a combination of recombinant glycosyltransferases and an endoglycoceramidase glycosynthase

(2011) Jamie R. Rich et al.   CHEMICAL COMMUNICATIONS

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

Quality Control of Fungus-specific Glucosylceramide inCryptococcus neoformansby Endoglycoceramidase-related Protein 1 (EGCrP1)

(2011) Yohei Ishibashi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Therapeutic Strategies for Gaucher Disease: Miglustat (NB-DNJ) as a Pharmacological Chaperone for Glucocerebrosidase and the Different Thermostability of Velaglucerase Alfa and Imiglucerase

(2011) Olga Abian et al.   MOLECULAR PHARMACEUTICS

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease

(2011) Karen M. Ashe et al.   PLoS One

Insights into Krabbe disease from structures of galactocerebrosidase

(2011) J. E. Deane et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

(2010) Nick Dekker et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2010) Richie Khanna et al.   FEBS Journal

Consolidation of glycosyl hydrolase family 30: A dual domain 4/7 hydrolase family consisting of two structurally distinct groups

(2010) Franz J. St John et al.   FEBS LETTERS

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

Molecular Basis of Reduced Glucosylceramidase Activity in the Most Common Gaucher Disease Mutant, N370S

(2010) Marc N. Offman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

X-ray and Biochemical Analysis of N370S Mutant Human Acid β-Glucosidase

(2010) Ronnie R. Wei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A New Archaeal β-Glycosidase fromSulfolobus solfataricus

(2010) Beatrice Cobucci-Ponzano et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

(2010) Martin D Witte et al.   Nature Chemical Biology

Approaches to labeling and identification of active site residues in glycosidases

(2010) Stephen G. Withers et al.   PROTEIN SCIENCE

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

(2009) Tom Wennekes et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation

(2009) Tom Wennekes et al.   JOURNAL OF MEDICINAL CHEMISTRY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reducing Glycosphingolipid Content in Adipose Tissue of Obese Mice Restores Insulin Sensitivity, Adipogenesis and Reduces Inflammation

(2009) Marco van Eijk et al.   PLoS One

Glycosphingolipids and insulin resistance

(2009) Mirjam Langeveld et al.   PROGRESS IN LIPID RESEARCH

Crystal structure of the covalent intermediate of human cytosolic β-glucosidase

(2008) Junji Noguchi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

Covalent inhibitors of glycosidases and their applications in biochemistry and biology

(2008) B. P Rempel et al.   GLYCOBIOLOGY