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Protein Degradation in Human Disease

  • Chapter
Protein Degradation in Health and Disease

Part of the book series: Progress in Molecular and Subcellular Biology ((PMSB,volume 29))

Abstract

Intracellular degradation of proteins constitutes a vital regulatory switch in a variety of central cellular processes. Additionally, it provides an essential mechanism in protein turnover for amino acid regeneration. Several mechanisms of protein degradation are known, but the majority of regulatory proteins are degraded through the ubiquitin-proteasome pathway. This pathway has thus been implicated in the control of apoptosis, cell cycle progression, immune response, development, transcriptional regulation, signal transduction, and receptor down-regulation. The complex nature of this, and other proteolysis mechanisms, and their critical roles in cellular processes underlies the existence of many aberrations related to several pathogenic diseases, both acquired and inherited. In this chapter, two major mechanisms of protein degradation, the ubiquitin proteasome system and the lysosome, will be discussed in relation to diseases resulting from mutations in a particular step of the pathways, and from mutations in proteins that induce their stabilization or degradation (summarized in Table 1).

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  1. Molecular Medicine Program, Guggenheim 1838, Mayo Foundation, 200 First Street SW, Rochester, Minnesota, 55905, USA

    Richard K. Plemper & Anthea L. Hammond

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  2. Anthea L. Hammond
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  1. Laboratoire d’Enzymologie Moléculaire et Fonctionnelle Département de Biologie Cellulaire Institut Jacques Monod, Universités Paris VI & VII, 2, Place Jussieu, 75251, Paris Cedex 05, France

    Michèle Reboud-Ravaux

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© 2002 Springer-Verlag Berlin Heidelberg

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Plemper, R.K., Hammond, A.L. (2002). Protein Degradation in Human Disease. In: Reboud-Ravaux, M. (eds) Protein Degradation in Health and Disease. Progress in Molecular and Subcellular Biology, vol 29. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56373-7_5

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  • DOI: https://doi.org/10.1007/978-3-642-56373-7_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62714-9

  • Online ISBN: 978-3-642-56373-7

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