ArticleJournal of inherited metabolic disease2007
Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- CRISPR/Cas9-mediated promoterless gene targeting reduces lysosome storage in MPS VII mice.Science China. Life sciences · 2025Article
- Cellular trafficking and fate mapping of cells within the nervous system after in utero hematopoietic cell transplantation.Communications biology · 2024Article
- Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.Molecular therapy. Methods & clinical development · 2022Article
- Failures of Endochondral Ossification in the Mucopolysaccharidoses.Current osteoporosis reports · 2020Review
- Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice.Molecular therapy. Methods & clinical development · 2018Article
- Synergistic effects of treating the spinal cord and brain in CLN1 disease.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Engineering mesenchymal stem cells for regenerative medicine and drug delivery.Methods (San Diego, Calif.) · 2015Review
- Partial rescue of mucopolysaccharidosis type VII mice with a lifelong engraftment of allogeneic stem cells in utero.Congenital anomalies · 2015Article
- Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.Gene therapy · 2013Article
- Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.The Journal of clinical investigation · 2013Article
- Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis.Annals of neurology · 2012Article
- Perinatal gene transfer to the liver.Current pharmaceutical design · 2011Review
- Mesenchymal stem cells for the sustained in vivo delivery of bioactive factors.Advanced drug delivery reviews · 2010Review
- Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2010Article
- Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Article
- Systemic correction of storage disease in MPS I NOD/SCID mice using the sleeping beauty transposon system.Molecular therapy : the journal of the American Society of Gene Therapy · 2009Article
- Promising CNS-directed enzyme replacement therapy for lysosomal storage diseases.Experimental neurology · 2009Article
- Widespread biochemical correction of murine mucopolysaccharidosis type VII pathology by liver hydrodynamic plasmid delivery.Gene therapy · 2009Article
- Comparative pathology of murine mucolipidosis types II and IIIC.Veterinary pathology · 2009Article
- Mass spectrometric and computational analysis of cytokine-induced alterations in the astrocyte secretome.Proteomics · 2009Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by beta-glucuronidase (GUSB) deficiency. This disease exhibits a broad spectrum of clinical signs including skeletal dysplasia, retinal degeneration, cognitive deficits and hearing impairment. Sustained, high-level expression of GUSB significantly improves the clinical course of the disease in the murine model of MPS VII. Low levels of enzyme expression (1-5% of normal) can significantly reduce the biochemical and histopathological manifestations of MPS VII. However, it has not been clear from previous studies whether persistent, low levels of circulating GUSB lead to significant improvements in the clinical presentation of this disease. We generated a rAAV2 vector that mediates persistent, low-level GUSB expression in the liver. Liver and serum levels of GUSB were maintained at approximately 5% and approximately 2.5% of normal, respectively, while other tissue ranged from background levels to 0.9%. This level of activity significantly reduced the secondary elevations of alpha-galactosidase and the levels of glycosaminoglycans in multiple tissues. Interestingly, this level of GUSB was also sufficient to reduce lysosomal storage in neurons in the brain. Although there were small but statistically significant improvements in retinal function, auditory function, skeletal dysplasia, and reproduction in rAAV-treated MPS VII mice, the clinical deficits were still profound and there was no improvement in lifespan. These data suggest that circulating levels of GUSB greater than 2.5% will be required to achieve substantial clinical improvements in MPS VII.
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