ArticleProceedings of the National Academy of Sciences of the United States of America2002
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 23 citations in OpenAlex.
- AMolecular genetics and metabolism reports · 2024Article
- The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background.Molecular genetics and metabolism reports · 2021Article
- Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.Orphanet journal of rare diseases · 2021Review
- mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy.The Journal of clinical investigation · 2017Article
- A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.PloS one · 2012Article
- Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).Human mutation · 2009Review
- Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.Molecular genetics and metabolism · 2008Article
- Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
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11 authors at 2 institutions in 2 countries.
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Abstract
Human mucopolysaccharidosis VII (MPS VII, Sly syndrome) results from a deficiency of beta-glucuronidase (GUS) and has been associated with a wide range in severity of clinical manifestations. To study missense mutant models of murine MPS VII with phenotypes of varying severity, we used targeted mutagenesis to produce E536A and E536Q, corresponding to active-site nucleophile replacements E540A and E540Q in human GUS, and L175F, corresponding to the most common human mutation, L176F. The E536A mouse had no GUS activity in any tissue and displayed a severe phenotype like that of the originally described MPS VII mice carrying a deletion mutation (gus(mps/mps)). E536Q and L175F mice had low levels of residual activity and milder phenotypes. All three mutant MPS models showed progressive lysosomal storage in many tissues but had different rates of accumulation. The amount of urinary glycosaminoglycan excretion paralleled the clinical severity, with urinary glycosaminoglycans remarkably higher in E536A mice than in E536Q or L175F mice. Molecular analysis showed that the Gus mRNA levels were quantitatively similar in the three mutant mouse strains and normal mice. These mouse models, which mimic different clinical phenotypes of human MPS VII, should be useful in studying pathogenesis and also provide useful models for studying enzyme replacement therapy and targeted correction of missense mutations.
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