Article
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.
Molecular and cellular biology - 1 Nov 1998
Gwynn B, Lueders K, Sands M S, Birkenmeier E H
Abstract excerpt
The severity of human mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, depends on the relative activity of the enzyme beta-glucuronidase. Loss of beta-glucuronidase activity can cause hydrops fetalis, with in utero or postnatal death of the patient. In this report, we show that beta-glu...
Topics
- Animals
- Base Sequence
- DNA Mutational Analysis
- Disease Models, Animal
- Genes, Intracisternal A-Particle
- Genotype
- Glucuronidase
- Humans
- Liver
- Lysosomes
- Mice
- Mice, Inbred Strains
- Molecular Sequence Data
- Mucopolysaccharidosis VII
- Mutagenesis, Insertional