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Poly(ADP-Ribose) in Inherited Human Diseases and Experimental Disease Models

  • Felix R. Althaus
  • Christoph Richter
Part of the Molecular Biology Biochemistry and Biophysics book series (MOLECULAR, volume 37)

Abstract

The study of molecular defects in inherited animal and human diseases may provide very valuable insights into the physiological functions of macromolecules. Unfortunately, no disease model is known so far, which would clearly point to a vital role of poly(ADP-ribose) biosynthesis in the normal function and survival of mammals. Nevertheless, abnormalities of poly(ADP-ribose) metabolism have been noted in inherited human diseases, and have also been investigated in experimental disease models. The etiological role of altered poly(ADP-ribose) metabolism in any of the examples studied is far from being understood. A notable exception to this may be the recent discovery by Williams and associates (Williams et al. 1984 a, b) of a hereditary human disease which is associated with a defect in poly(ADP-ribose) catabolism. Another clue to a better understanding of the physiological role of poly(ADP-ribose) may be derived from the demonstration of naturally occurring antibodies against poly(ADP-ribose) in the serum of patients with systemic lupus erythematosus (e.g., Kanai et al. 1977). A third type of evidence, linking poly-ADP-ribosylation to neoplastic diseases, may be derived from studies which involved the use of ADP-ribosylation inhibitors in experimentally induced neoplasias in vitro and in vivo (e.g., Kun et al. 1983; Kun and Bauer 1985; Borek et al. 1984b).

Keywords

Systemic Lupus Erythematosus Xeroderma Pigmentosum Islet Cell Tumor Lysosomal Storage Disease Hamster Embryo Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1987

Authors and Affiliations

  • Felix R. Althaus
    • 1
  • Christoph Richter
    • 2
  1. 1.Institut für Pharmakologie und BiochemieUniversität ZürichZürichGermany
  2. 2.Laboratorium für BiochemieETH-ZentrumZürichGermany

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