A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the β-glucuronidase gene: Clinical and pathologic findings

Pediatric Research

Volumn 49, Issue 3, 2001, Pages 342-348

  Vogler, Carole ^a   Levy, Beth ^a   Galvin, Nancy ^a   Sands, Mark S ^b   Birkenmeier, Edward H ^c   Sly, William S ^a   Barker, Jane ^c  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCURONIDASE; GLYCOSAMINOGLYCAN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DNA TRANSPOSITION; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE INSERTION; GENOTYPE; HISTOPATHOLOGY; MALE; MOUSE; MUCOPOLYSACCHARIDOSIS TYPE 7; NONHUMAN; ONCOGENE; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 0035096842     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200103000-00007     Document Type: Article

References (18)

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4. Murine mucopolysaccharidosis type VII: The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease
5. Intracistemal A-particle element transposition into the murine β-glucuronidase gene correlates with loss of enzyme activity: A new model for β-glucuronidase deficiency in the C3H mouse
6. Murine mucopolysaccharidosis type VII: Characterization of a mouse with β-glucuronidase deficiency
7. A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in beta-glucuronidase-deficient mice
8. A single-base-pair deletion in the β-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII
9. Pathology of the ear in murine mucopolysaccharidosis type VII: Morphologic correlates of hearing loss
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12. Enzyme replacement therapy improves reproductive performance in mucopolysaccharidosis type VII mice but does not prevent perinatal loses
13. Behavioural abnormalities in a murine model of human lysosomal storage disease
14. Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII
15. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function
16. Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease
17. Variant clinical course of mucopolysaccharidosis type VII in two groups of mice carding the same mutation
18. Enzyme replacement therapy for Gaucher disease