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| inherited deficiency of beta-glucuronidase in mice causes mucopolysaccharidosis VII, a progressive degenerative disease that reduces lifespan and results from lysosomal storage of undegraded glycosaminoglycans in the spleen, liver, kidney, cornea, brain and skeletal system ( | |
Beta-glucuronidase deficiency in dog leads to mucopolysaccharidosis type VII ( |
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mice with beta-glucuronidase deficiency display lysosomal storage disease with similarities to human mucopolysaccharidosis type VII ( |
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Cats with beta-glucuronidase deficiency display walking difficulties, an enlarged abdomen, facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, and vacuolated lymphocytes ( |
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Affected gus(mps2J)/gus(mps2J) mice are deficient in beta-glucuronidase because of insertion of an intracisternal A particle element into intron 8, have have < 1% of normal beta-glucuronidase activity and secondary elevations of other lysosomal enzymes and the phenotype includes shortened life-span, dysmorphic features, and skeletal dysplasia ( |
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E536A mutant mice have no GUS activity in any tissue and display a severe MPS VII phenotype, E536Q and L175F mutant mice have low levels of residual activity and milder MPS VII phenotypes ( |
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MPSVII-iPS cells demonstrated a markedly impaired ability to form embryoid bodies in vitro, and MPSVII-embryoid bodies exibited elevated levels of hyaluronan and its receptor CD44, and markedly reduced expression levels of E-cadherin and cell-proliferating marker ( |