The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases

Gaucher Disease and Its Treatment Options

(2014) Lunawati L. Bennett et al.   ANNALS OF PHARMACOTHERAPY

Eliglustat tartrate

(2014) J.A. Shayman   DRUGS OF THE FUTURE

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

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease

(2013) Yoshiyuki Suzuki   BRAIN & DEVELOPMENT

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

(2013) Katherine A. Lyseng-Williamson   DRUGS

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

(2013) Christina M. Ridley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

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

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

(2013) K. Sandhoff et al.   JOURNAL OF NEUROSCIENCE

Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice

(2013) Julian R. Arthur et al.   NEUROCHEMICAL RESEARCH

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

(2013) Yildiz Yildiz et al.   Orphanet Journal of Rare Diseases

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

(2013) S. Pablo Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Normalization of Cholesterol Homeostasis by 2-Hydroxypropyl-β-cyclodextrin in Neurons and Glia from Niemann-Pick C1 (NPC1)-deficient Mice

(2012) Kyle B. Peake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Discovery and Characterization of an Inhibitor of Glucosylceramide Synthase

(2012) Steven Richards et al.   JOURNAL OF MEDICINAL CHEMISTRY

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

(2012) Dominique P Germain et al.   Orphanet Journal of Rare Diseases

Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

(2012) Mario A. Cabrera-Salazar et al.   PLoS One

Discovery of a new class of glucosylceramide synthase inhibitors

(2011) Elena Koltun et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

(2011) Abigail I. Guce et al.   CHEMISTRY & BIOLOGY

Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain

(2011) Scott D. Larsen et al.   JOURNAL OF LIPID RESEARCH

The cellular pathology of lysosomal diseases

(2011) Timothy M Cox et al.   JOURNAL OF PATHOLOGY

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

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

(2010) Richie Khanna et al.   FEBS Journal

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

(2010) John Marshall et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease

(2010) John Marshall et al.   PLoS One

Group XV phospholipase A2, a lysosomal phospholipase A2

(2010) James A. Shayman et al.   PROGRESS IN LIPID RESEARCH

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

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

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

(2009) Giancarlo Parenti   EMBO Molecular Medicine

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

Decreased Nitric Oxide Bioavailability in a Mouse Model of Fabry Disease

(2009) L. Shu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

VASCULAR DYSFUNCTION IN THE α-GALACTOSIDASE A-KNOCKOUT MOUSE IS AN ENDOTHELIAL CELL-, PLASMA MEMBRANE-BASED DEFECT

(2008) James L Park et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Successful Low-Risk Hematopoietic Cell Therapy in a Mouse Model of Type 1 Gaucher Disease

(2008) Ida Berglin Enquist et al.   STEM CELLS