ArticleProceedings of the National Academy of Sciences of the United States of America2001
Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Review
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice.Annals of clinical and translational neurology · 2015Article
- Central nervous system delivery of helper-dependent canine adenovirus corrects neuropathology and behavior in mucopolysaccharidosis type VII mice.Human gene therapy · 2014Article
- Enzyme replacement therapy on hypophosphatasia mouse model.Journal of inherited metabolic disease · 2014Article
- Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.Journal of inherited metabolic disease · 2013Article
- Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.Molecular genetics and metabolism · 2012Article
- A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.PloS one · 2012Article
- Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Article
- Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).Human mutation · 2009Review
- Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2005Article
- Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.Human molecular genetics · 2003Article
- New strategies for enzyme replacement therapy for lysosomal storage diseases.Rejuvenation researchReview
- Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy.Molecular medicine (Cambridge, Mass.)Article
- Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.Journal of veterinary internal medicineArticle
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type VII (MPS VII; Sly syndrome) is an autosomal recessive lysosomal storage disorder due to an inherited deficiency of beta-glucuronidase. A naturally occurring mouse model for this disease was discovered at The Jackson Laboratory and shown to be due to homozygosity for a 1-bp deletion in exon 10 of the gus gene. The murine model MPS VII (gus(mps/mps)) has been very well characterized and used extensively to evaluate experimental strategies for lysosomal storage diseases, including bone marrow transplantation, enzyme replacement therapy, and gene therapy. To enhance the value of this model for enzyme and gene therapy, we produced a transgenic mouse expressing the human beta-glucuronidase cDNA with an amino acid substitution at the active site nucleophile (E540A) and bred it onto the MPS VII (gus(mps/mps)) background. We demonstrate here that the mutant mice bearing the active site mutant human transgene retain the clinical, morphological, biochemical, and histopathological characteristics of the original MPS VII (gus(mps/mps)) mouse. However, they are now tolerant to immune challenge with human beta-glucuronidase. This "tolerant MPS VII mouse model" should be useful for preclinical trials evaluating the effectiveness of enzyme and/or gene therapy with the human gene products likely to be administered to human patients with MPS VII.
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