(Q34941895)

5 August 2017

1 reference

title

Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis (English)

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5 August 2017

0 references

Jeyakumar M

1

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5 August 2017

Butters TD

series ordinal

2

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5 August 2017

Dwek RA

series ordinal

3

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5 August 2017

Platt FM

series ordinal

4

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5 August 2017

publication date

1 October 2002

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Neuropathology and Applied Neurobiology

5 August 2017

published in

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5 August 2017

volume

28

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5 August 2017

issue

5

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5 August 2017

page(s)

343-357

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Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

5 August 2017

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21 January 2018

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Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy

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New perspectives on the function of myelin galactolipids.

21 January 2018

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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

21 January 2018

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21 January 2018

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21 January 2018

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Targeting glycosylation as a therapeutic approach

21 January 2018

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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

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Clinical and biochemical outcome of marrow transplantation for Gaucher disease of the Norrbottnian type

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Emerging themes in lipid rafts and caveolae.

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21 January 2018

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Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

21 January 2018

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Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters

21 January 2018

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The pathology of Sandhoff's disease

21 January 2018

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Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases

21 January 2018

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21 January 2018

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Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

21 January 2018

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Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

21 January 2018

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Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

21 January 2018

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An inducible mouse model of late onset Tay-Sachs disease

21 January 2018

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Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases

21 January 2018

1 reference

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Substrate reduction therapy for glycosphingolipid storage disorders

21 January 2018

1 reference

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Improved Inhibitors of Glucosylceramide Synthase

21 January 2018

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GM3 (hematoside) sphingolipodystrophy

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

1 reference

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Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

21 January 2018

1 reference

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Adult GM1-gangliosidosis: clinical patterns and rectal biopsy

21 January 2018

1 reference

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Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice

21 January 2018

1 reference

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Membrane traffic in sphingolipid storage diseases

21 January 2018

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Advances in the management of Anderson-Fabry disease: enzyme replacement therapy

21 January 2018

1 reference

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Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

21 January 2018

1 reference

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Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

21 January 2018

1 reference

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Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

21 January 2018

1 reference

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Treatment of Gaucher disease with an enzyme inhibitor

21 January 2018

1 reference

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Lysosomal storage diseases in adults

21 January 2018

1 reference

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Gene therapy of lysosomal storage disorders

21 January 2018

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Intracellular trafficking of glycosphingolipids: role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion

21 January 2018

1 reference

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Topology of glycosphingolipid degradation

21 January 2018

1 reference

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Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

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Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology

21 January 2018

1 reference

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Cerebral Sponginess and GM3, Gangliosidosis: Ultrastructure and Probable Pathogenesis

21 January 2018

1 reference

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Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease

21 January 2018

1 reference

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The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse

21 January 2018

1 reference

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Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

GM2 ganglioside and pyramidal neuron dendritogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

A vital role for glycosphingolipid synthesis during development and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

"Global" cell replacement is feasible via neural stem cell transplantation: evidence from the dysmyelinated shiverer mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2002.00422.X

10.1046/J.1365-2990.2002.00422.X

21 January 2018

Identifiers

DOI

1 reference

5 August 2017

1 reference