Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene
نویسندگان
چکیده
منابع مشابه
α-L-iduronidase therapy for mucopolysaccharidosis type I
More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler syndrome) have been treated with hematopoietic cell transplantation (HCT) throughout the world since the introduction of transplantation as therapy almost 30 years ago. More recently, the availability of recombinant alpha-L-iduronidase (IDUA) has resulted in the widespread treatment of less severe forms of MPS I with enzy...
متن کاملMucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
BACKGROUND Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes. AIM OF STUDY This study was carried out on six newly collected MPS I patients recruited from many regions...
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We have characterized a new mutant mouse that has virtually no /-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; fl-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the fl-glucuron...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1997
ISSN: 1460-2083
DOI: 10.1093/hmg/6.4.503