Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation (original) (raw)
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
Raymond Dwek
Proceedings of the National Academy of Sciences, 1999
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Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease
Raymond Dwek
Neurobiology of Disease, 2004
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Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease
Fumiko Matsuzawa
Molecular Therapy, 2010
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Substrate deprivation therapy in juvenile Sandhoff disease
Michel Willemsen
Journal of Inherited Metabolic Disease, 2009
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Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human b-hexosaminidase A on the accumulated GM2 ganglioside
Kohji Itoh
J Hum Genet, 2005
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Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human β-hexosaminidase A on the accumulated GM2 ganglioside
Kohji Itoh
Journal of Human Genetics, 2005
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Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease
Barry Boland
Journal of Clinical Medicine
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A Pro504 right-arrow Ser Substitution in the beta -Subunit of beta -Hexosaminidase A Inhibits alpha -Subunit Hydrolysis of GM2 Ganglioside, Resulting in Chronic Sandhoff Disease
Aleksander Hinek
Journal of Biological Chemistry, 1998
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Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation
John Olschowka
Journal of Neuroinflammation, 2012
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Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model
Patrick Thompson
Molecular Therapy - Methods & Clinical Development, 2019
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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice
Ganna Panasyuk
Human molecular genetics, 2018
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Long-Term Correction of Sandhoff Disease Following Intravenous Delivery of rAAV9 to Mouse Neonates
Alexander ulloa bello
Molecular Therapy, 2014
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NSAIDs increase survival in the Sandhoff disease mouse: Synergy withN-butyldeoxynojirimycin
Ian Williams
Annals of Neurology, 2004
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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
Raymond Dwek
Journal of Inherited Metabolic Disease, 2001
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Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases
Carlos Galán Morales
Human Molecular Genetics, 1996
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126. Comparative Analysis of brain lipids in Mice, Cats, and Humans with Sandhoff disease
Thomas Seyfried
Molecular Genetics and Metabolism, 2009
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Molecular basis of an adult form of Sandhoff disease: Substitution of glutamine for arginine at position 505 of the β-chain of β-hexosaminidase results in a labile enzyme
Vianney de Jong
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1993
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Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid- Peptide
anthony stevens
Journal of Neuroscience, 2012
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Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases
Grzegorz Węgrzyn
Journal of Applied Genetics, 2007
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Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease
magali richard
Latest Findings in Intellectual and Developmental Disabilities Research, 2012
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Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease
Daisuke Tsuji, Kohji Itoh
PLoS ONE, 2011
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AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System
Judith Hudson, Aime Johnson
ASN neuro, 2015
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Systemic Gene Transfer of a Hexosaminidase Variant Using a scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice
Patrick Thompson
Human gene therapy, 2016
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Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis
Daniel Kirschner
Journal of Negative Results in BioMedicine, 2007
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Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients
Virginia Loredana
Molecular and Cellular Biochemistry, 2010
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Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation
Marie Vanier
Molecular Genetics and Metabolism, 2005
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