Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII
نویسندگان
چکیده
منابع مشابه
Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.
A child is presented with mucopolysaccharidosis VII (beta-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognised as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydrocephalus. This child's course and data fr...
متن کاملAnimal Model of Human Disease: Mucopolysaccharidosis Type VII (Sly Syndrome). Beta-Glucuronidase-Deficient Mucopolysaccharidosis in the Dog
Haskins, M. E., Aguirre, G. D., Jezyk, P. F., Schuchman, E. H., Desnick, R. J., & Patterson, D. F. (1983). Animal model of human disease: Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. American Journal of Pathology, 138(6), 1553–1555. PMCID: PMC1886403 Reproduced from Am J Pathol 1991, 138 (6): 1553–1555 with permission from the Ame...
متن کاملChemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.
Enzyme replacement therapy has been used successfully in many lysosomal storage diseases. However, correction of brain storage has been limited by the inability of infused enzyme to cross the blood-brain barrier. The newborn mouse is an exception because recombinant enzyme is delivered to neonatal brain after mannose 6-phosphate receptor-mediated transcytosis. Access to this route is very limit...
متن کاملInfused Fc-tagged beta-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice.
Glycosaminoglycan storage begins in prenatal life in patients with mucopolysaccharidosis (MPS). In fact, prenatal hydrops is a common manifestation of MPS VII because of beta-glucuronidase (GUS) deficiency. One way to address prenatal storage might be to deliver the missing enzyme across the placenta into the fetal circulation. Maternal IgG is transported across the placenta by the neonatal Fc ...
متن کاملBehavior and therapeutic efficacy of beta-glucuronidase-positive mononuclear phagocytes in a murine model of mucopolysaccharidosis type VII.
Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted beta-glucuronidase-positive mononuclear phagocytes derived from either the peritoneum or from bone marrow in vitro into syngeneic recipients with mucopolysaccharidosis type VII ...
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ژورنال
عنوان ژورنال: Journal of Heredity
سال: 1999
ISSN: 1471-8505
DOI: 10.1093/jhered/90.1.119