Related references
Note: Only part of the references are listed.A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
Elena Lukina et al.
BLOOD (2010)
α-Synuclein Activates Microglia by Inducing the Expressions of Matrix Metalloproteinases and the Subsequent Activation of Protease-Activated Receptor-1
Eun-Jung Lee et al.
JOURNAL OF IMMUNOLOGY (2010)
Pathophysiology of neuropathic lysosomal storage disorders
Cinzia Maria Bellettato et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Therapeutic approaches for neuronopathic lysosomal storage disorders
Raphael Schiffmann
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation
Tom Wennekes et al.
JOURNAL OF MEDICINAL CHEMISTRY (2010)
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
Karen M. Ashe et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Miglustat in adult and juvenile patients with Niemann Pick disease type C: Long-term data from a clinical trial
James E. Wraith et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease
John Marshall et al.
PLOS ONE (2010)
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up
Marcella Masciullo et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
Barbara E. Shapiro et al.
GENETICS IN MEDICINE (2009)
Substrate reduction therapy in juvenile GM2 gangliosidosis
Gustavo H. B. Maegawa et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Reducing Glycosphingolipid Content in Adipose Tissue of Obese Mice Restores Insulin Sensitivity, Adipogenesis and Reduces Inflammation
Marco van Eijk et al.
PLOS ONE (2009)
Randomized, Controlled Trial of Miglustat in Gaucher's Disease Type 3
Raphael Schiffmann et al.
ANNALS OF NEUROLOGY (2008)
Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease
Yun-Ping Wu et al.
HUMAN MOLECULAR GENETICS (2008)
Accumulation of glucosylceramide in murine testis, caused by inhibition of β-glucosidase 2 -: Implications for spermatogenesis
Charlotte M. Walden et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases
E. H. Davies et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity
Johannes M. Aerts et al.
DIABETES (2007)
Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2
Rolf G. Boot et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility
Yildiz Yildiz et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Conditional LoxP-flanked glucosylceramide synthase allele controlling glycosphingolipid synthesis
T Yamashita et al.
GENESIS (2005)
Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth
R Jennemann et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Sphingolipidomics: High-throughput, structure-specific, and quantitative analysis of sphingolipids by liquid chromatography tandem mass spectrometry
AH Merrill et al.
METHODS (2005)
Aggregated α-synuclein activates microglia:: a process leading to disease progression in Parkinson's disease
W Zhang et al.
FASEB JOURNAL (2005)
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice
JL Kasperzyk et al.
JOURNAL OF LIPID RESEARCH (2005)
Interruption of ganglioside synthesis produces central nervous system degeneration and altered axon-glial interactions
T Yamashita et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease
U Andersson et al.
NEUROBIOLOGY OF DISEASE (2004)
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
WR Wilcox et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis
C Shen et al.
INTERNATIONAL IMMUNOPHARMACOLOGY (2004)
Deletion of macrophage-inflammatory protein 1α retards neurodegeneration in Sandhoff disease mice
YP Wu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
NSAIDs increase survival in the Sandhoff disease mouse:: Synergy with N-butyldeoxynojirimycin
M Jeyakumar et al.
ANNALS OF NEUROLOGY (2004)
Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin
D Pelled et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Substrate reduction therapy in mouse models of the glycosphingolipidoses
FM Platt et al.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2003)
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
M Jeyakumar et al.
BRAIN (2003)
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
NJ Weinreb et al.
AMERICAN JOURNAL OF MEDICINE (2002)
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
R Myerowitz et al.
HUMAN MOLECULAR GENETICS (2002)
Substrate reduction therapy for glycosphingolipid storage disorders
RH Lachmann et al.
EXPERT OPINION ON INVESTIGATIONAL DRUGS (2001)
Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
M Jeyakumar et al.
BLOOD (2001)
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
R Wada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)