P₀‐Deficient Knockout Mice as Tools to Understand Pathomechanisms in Charcot‐Marie‐Tooth 1B and P₀‐Related Déjérine‐Sottas Syndrome

• RUDOLF MARTINI

抄録

ABSTRACT: P 0 (mylin protein zero, MPZ) is one of the four identified culprit genes for hereditary peripheral neuropathies. Homo‐ or heterozygous null mutants for P 0 share pathological features with some patients suffering from P 0 ‐related Déjérine‐Sottas‐Syndrome (DSS) or Charcot‐Marie‐Tooth (CMT) neuropathy, type 1B, respectively, and can thus be considered as appropiate animal models for the corresponding diseases. This article focuses on distinct histopathological features in these mice. Such features include dysregulation of Schwann cell genes and axonal loss in homozygous mutants and significant infiltration of T‐lymphocytes and macrophages in heterozygous mutants. These histological characteristics are instrumental in understanding the pathogenesis of the disease and may help in developing treatments.

収録刊行物

• Annals of the New York Academy of Sciences

  Annals of the New York Academy of Sciences 883 (1), 273-280, 1999-10

  Wiley

キーワード

• History and Philosophy of Science
• General Biochemistry, Genetics and Molecular Biology
• General Neuroscience

詳細情報

• CRID: 1361418520247811456
• NII論文ID: 30010187010
• NII書誌ID: AA00051776
• DOI: 10.1111/j.1749-6632.1999.tb08589.x
• ISSN: 17496632
• ISSN: 00778923
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1749-6632.1999.tb08589.x
• Web Site: https://nyaspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1749-6632.1999.tb08589.x
• データソース種別:
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  • CiNii Articles