| Q36332885 | A genetic model of substrate reduction therapy for mucopolysaccharidosis |
| Q34244952 | A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology |
| Q36482816 | AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system |
| Q26738663 | Animal models of GM2 gangliosidosis: utility and limitations |
| Q35934030 | Ashkenazi Jewish genetic disorders |
| Q46665497 | Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis |
| Q35153233 | Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention |
| Q91584322 | Bone marrow transplantation for lysosomal storage disorders |
| Q31918244 | Carbohydrate receptor depletion as an antimicrobial strategy for prevention of urinary tract infection. |
| Q31058258 | Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis |
| Q34793236 | Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis |
| Q61479777 | Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B |
| Q28507753 | Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice |
| Q34238616 | Development of targeted therapies for Parkinson's disease and related synucleinopathies |
| Q37179532 | Differential sensitivity of mouse strains to an N-alkylated imino sugar: glycosphingolipid metabolism and acrosome formation |
| Q54566097 | Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease. |
| Q42909006 | Early deficits in motor coordination and cognitive dysfunction in a mouse model of the neurodegenerative lysosomal storage disorder, Sandhoff disease. |
| Q30477455 | Effective gene therapy in an authentic model of Tay-Sachs-related diseases |
| Q47772971 | Effects of neonatal fluoxetine exposure on behavior across development in rats selectively bred for an infantile affective trait. |
| Q35886150 | Elevation of GM2 ganglioside during ethanol-induced apoptotic neurodegeneration in the developing mouse brain |
| Q48159574 | Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice |
| Q34224260 | From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system |
| Q40691553 | Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse |
| Q34443517 | Gaucher disease: clinical profile and therapeutic developments |
| Q34114285 | Gene therapy in lysosomal diseases |
| Q52606785 | Genetics and Therapies for GM2 Gangliosidosis. |
| Q33769790 | Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease |
| Q44195483 | Glucosylceramide modulates membrane traffic along the endocytic pathway |
| Q37027396 | Glycan antagonists and inhibitors: a fount for drug discovery |
| Q34941895 | Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis |
| Q37189795 | Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice |
| Q34539778 | Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. |
| Q43597906 | Identification of active site residues in glucosylceramide synthase. A nucleotide-binding catalytic motif conserved with processive beta-glycosyltransferases |
| Q34557737 | Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses |
| Q28478879 | Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease |
| Q57970789 | Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration |
| Q28587559 | 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 |
| Q51754932 | Inhibition of glucosylceramide synthase stimulates autophagy flux in neurons. |
| Q48466566 | Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. |
| Q34281044 | Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy |
| Q36697823 | Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase |
| Q26744230 | Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders |
| Q37866549 | Lysosomal lipid storage diseases |
| Q39734878 | Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells. |
| Q52123748 | Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease. |
| Q40585999 | Membrane disruption and cytotoxicity of hydrophobic N-alkylated imino sugars is independent of the inhibition of protein and lipid glycosylation |
| Q35580462 | Miglustat |
| Q46060912 | Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment |
| Q48413382 | Miglustat therapy in juvenile Sandhoff disease |
| Q35024890 | Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene |
| Q28362969 | N -butyldeoxynojirimycin reduces growth and ganglioside content of experimental mouse brain tumours |
| Q62403498 | N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo |
| Q34587013 | N-butyldeoxynojirimycin causes weight loss as a result of appetite suppression in lean and obese mice |
| Q38727163 | N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. |
| Q40622683 | N-butyldeoxynojirimycin inhibits murine melanoma cell ganglioside metabolism and delays tumor onset |
| Q48799845 | N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice. |
| Q39105558 | Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease |
| Q48385603 | Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice |
| Q36363837 | New developments in treating glycosphingolipid storage diseases. |
| Q34585137 | New prospects for the treatment of lysosomal storage diseases |
| Q36646889 | New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy |
| Q36879362 | Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat |
| Q53912470 | Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. |
| Q40589199 | Oligonucleotides blocking glucosylceramide synthase expression selectively reverse drug resistance in cancer cells |
| Q38218040 | Pathogenic role of ganglioside metabolism in neurodegenerative diseases |
| Q33442678 | Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis |
| Q36739788 | Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders |
| Q33930354 | Physiology and pathophysiology of sphingolipid metabolism and signaling |
| Q94465770 | Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases |
| Q96768562 | Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice |
| Q33813101 | Prostaglandin E2 reverses aberrant production of an inflammatory chemokine by microglia from Sandhoff disease model mice through the cAMP-PKA pathway |
| Q40622892 | RNA Interference: Analyzing the Function of Glycoproteins and Glycosylating Proteins in Mammalian Cells |
| Q39738033 | Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells |
| Q28507844 | Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation |
| Q37826106 | Secondary alterations of sphingolipid metabolism in lysosomal storage diseases. |
| Q59383537 | Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment |
| Q39038060 | Small molecules as therapeutic agents for inborn errors of metabolism |
| Q34534466 | Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders |
| Q46695611 | Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. |
| Q36210235 | Storage solutions: treating lysosomal disorders of the brain |
| Q92822895 | Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity |
| Q48413392 | Substrate deprivation therapy in juvenile Sandhoff disease |
| Q44514406 | Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background |
| Q37109614 | Substrate reduction therapy |
| Q38957273 | Substrate reduction therapy for Krabbe's disease |
| Q35153239 | Substrate reduction therapy in mouse models of the glycosphingolipidoses |
| Q40317796 | Substrate reduction therapy of glycosphingolipid storage disorders. |
| Q84989739 | Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up |
| Q33348492 | Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease |
| Q35056076 | Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. |
| Q43833824 | Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy |
| Q92534799 | Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia |
| Q34535234 | Synthesis, Processing, and Function of N-glycans in N-glycoproteins |
| Q27300989 | Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan |
| Q59358757 | Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease |
| Q34741569 | Targeting glycosylation as a therapeutic approach |
| Q53610521 | Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. |
| Q42368148 | The contribution of the acute phase response to the pathogenesis of relapse in chronic-relapsing experimental autoimmune encephalitis models of multiple sclerosis |
| Q34388106 | The organizing potential of sphingolipids in intracellular membrane transport |
| Q50604259 | The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression. |
| Q34311420 | Therapeutic approaches for lysosomal storage diseases |
| Q37693817 | Therapeutic approaches for neuronopathic lysosomal storage disorders |
| Q48639806 | Therapeutic effects of stem cells and substrate reduction in juvenile Sandhoff mice |
| Q34150218 | Treating glucosphingolipid disorders by chemotherapy: use of approved drugs and over-the-counter remedies |
| Q35536435 | Ubiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model |
| Q37151058 | β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology |