β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology

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

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

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Regulation of Autophagy by Sphingolipids

(2012) Carmen Bedia et al.   Anti-Cancer Agents in Medicinal Chemistry

Sphingolipid Metabolism and Drug Resistance in Hematological Malignancies

(2012) Valerie Gouaze-Andersson et al.   Anti-Cancer Agents in Medicinal Chemistry

Ceramide and Apoptosis: Exploring the Enigmatic Connections between Sphingolipid Metabolism and Programmed Cell Death

(2012) Thomas D. Mullen et al.   Anti-Cancer Agents in Medicinal Chemistry

Cancer and sphingolipid storage disease therapy using novel synthetic analogs of sphingolipids

(2012) Shimon Gatt et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Ceramide as a target of chemotherapy: its role in apoptosis and autophagy

(2012) Clara De Palma et al.   Clinical Lipidology

The nonlysosomal β-glucosidase GBA2 promotes endoplasmic reticulum stress and impairs tumorigenicity of human melanoma cells

(2012) Sonia-Caroline Sorli et al.   FASEB JOURNAL

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

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

(2012) Massimo Aureli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Potent Aminocyclitol Glucocerebrosidase Inhibitors are Subnanomolar Pharmacological Chaperones for Treating Gaucher Disease

(2012) Ana Trapero et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

(2012) Ethan D. Goddard-Borger et al.   JOURNAL OF MEDICINAL CHEMISTRY

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Synthesis and Evaluation of Eight- and Four-Membered Iminosugar Analogues as Inhibitors of Testicular Ceramide-Specific Glucosyltransferase, Testicular β-Glucosidase 2, and Other Glycosidases

(2012) Jae Chul Lee et al.   JOURNAL OF ORGANIC CHEMISTRY

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice

(2012) Jennifer B. Nietupski et al.   MOLECULAR GENETICS AND METABOLISM

Iminosugars as therapeutic agents: recent advances and promising trends

(2011) Robert J Nash et al.   Future Medicinal Chemistry

Effect of intravenous flumazenil on oral midazolam pharmacokinetics and pharmacodynamics for use as a cytochrome P450 3A probe

(2011) J.D. Ma et al.   INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS

The resurgence of covalent drugs

(2011) Juswinder Singh et al.   NATURE REVIEWS DRUG DISCOVERY

Selection of the biological activity of DNJ neoglycoconjugates through click length variation of the side chain

(2011) Nicolas Ardes-Guisot et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

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

Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease

(2010) David A. Wenger et al.   CLINICAL GENETICS

Iminosugars past, present and future: medicines for tomorrow

(2010) Graeme Horne et al.   DRUG DISCOVERY TODAY

Sphingolipids and cancer: ceramide and sphingosine-1-phosphate in the regulation of cell death and drug resistance

(2010) Suriyan Ponnusamy et al.   Future Oncology

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts

(2010) Katrin Fantur et al.   MOLECULAR GENETICS AND METABOLISM

Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars

(2010) Amar Ghisaidoobe et al.   ACS Medicinal Chemistry Letters

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

(2010) Ed Wraith   Therapeutics and Clinical Risk Management

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Sugar-mimicking glycosidase inhibitors: bioactivity and application

(2009) N. Asano   CELLULAR AND MOLECULAR LIFE SCIENCES

Goal-oriented therapy with miglustat in Gaucher disease

(2009) Gregory M. Pastores et al.   CURRENT MEDICAL RESEARCH AND OPINION

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice

(2009) Nora Bijl et al.   HEPATOLOGY

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

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

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

Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease

(2009) Kanako Sugawara et al.   MOLECULAR GENETICS AND METABOLISM

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

The Carbohydrate-Active EnZymes database (CAZy): an expert resource for Glycogenomics

(2008) B. L. Cantarel et al.   NUCLEIC ACIDS RESEARCH