PlumX Metrics
Embed PlumX Metrics

Acid sphingomyelinase deficient mice: A model of types A and B Niemann–Pick disease

Nature Genetics, ISSN: 1546-1718, Vol: 10, Issue: 3, Page: 288-293
1995
  • 437
    Citations
  • 0
    Usage
  • 112
    Captures
  • 2
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    437
  • Captures
    112
  • Mentions
    2
    • References
      2
      • Wikipedia
        2

Article Description

Types A and B Niemann–Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM). An animal model of NPD has been created by gene targeting. In affected animals, the disease followed a severe, neurodegenerative course and death occurred by eight months of age. Analysis of these animals showed their tissues had no detectable ASM activity, the blood cholesterol levels and sphingomyelin in the liver and brain were elevated, and atrophy of the cerebellum and marked deficiency of Purkinje cells was evident. Microscopic analysis revealed NPD ‘cells’ in reticuloendothelial organs and characteristic NPD lesions in the brain. Thus, the ASM deficient mice should be of great value for studying the pathogenesis and treatment of NPD, and for investigations into the role of ASM in signal transduction and apoptosis. © 1995 Nature Publishing Group.

Bibliographic Details

Kenichi Horinouchi; Shai Erlich; Robert J. Desnick; Edward H. Schuchman; Daniel P. Perl; Klaus Ferlinz; Konrad Sandhoff; Charles L. Bisgaier; Colin L. Stewart

Springer Science and Business Media LLC

Biochemistry, Genetics and Molecular Biology

Provide Feedback

Have ideas for a new metric? Would you like to see something else here?Let us know