4.6 Article

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

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Pathophysiology of neuropathic lysosomal storage disorders

Cinzia Maria Bellettato et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

Therapeutic approaches for neuronopathic lysosomal storage disorders

Raphael Schiffmann

JOURNAL OF INHERITED METABOLIC DISEASE (2010)

Article Endocrinology & Metabolism

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

Karen M. Ashe et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Article Endocrinology & Metabolism

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)

Article Endocrinology & Metabolism

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)

Article Endocrinology & Metabolism

Substrate reduction therapy in juvenile GM2 gangliosidosis

Gustavo H. B. Maegawa et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Clinical Neurology

Randomized, Controlled Trial of Miglustat in Gaucher's Disease Type 3

Raphael Schiffmann et al.

ANNALS OF NEUROLOGY (2008)

Article Biochemistry & Molecular Biology

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease

Yun-Ping Wu et al.

HUMAN MOLECULAR GENETICS (2008)

Article Biochemistry & Molecular Biology

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)

Review Endocrinology & Metabolism

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)

Article Endocrinology & Metabolism

Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity

Johannes M. Aerts et al.

DIABETES (2007)

Article Biochemistry & Molecular Biology

Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2

Rolf G. Boot et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Medicine, Research & Experimental

Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility

Yildiz Yildiz et al.

JOURNAL OF CLINICAL INVESTIGATION (2006)

Article Multidisciplinary Sciences

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)

Article Biochemistry & Molecular Biology

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice

JL Kasperzyk et al.

JOURNAL OF LIPID RESEARCH (2005)

Article Multidisciplinary Sciences

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)

Article Genetics & Heredity

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

WR Wilcox et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

Article Multidisciplinary Sciences

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)

Article Biology

Substrate reduction therapy in mouse models of the glycosphingolipidoses

FM Platt et al.

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2003)

Article Biochemistry & Molecular Biology

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling

R Myerowitz et al.

HUMAN MOLECULAR GENETICS (2002)

Review Pharmacology & Pharmacy

Substrate reduction therapy for glycosphingolipid storage disorders

RH Lachmann et al.

EXPERT OPINION ON INVESTIGATIONAL DRUGS (2001)

Article Multidisciplinary Sciences

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)