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The Chaperonopathies

Part of the book series: SpringerBriefs in Biochemistry and Molecular Biology ((BRIEFSBIOCHEM))

Abstract

This chapter provides an introduction to the biology and pathology of molecular chaperones, many of which are heat-shock proteins, involved in protein homeostasis and other unrelated functions. When chaperones are defective structurally and/or functionally they may cause disease. These diseases in which chaperones play an etiologic-pathogenic role are the chaperonopathies. The chapter also gives a clinical-pathological overview of chaperonopathies and guidelines for their identification and diagnosis. It briefly describes how to detect and characterize a chaperonopathy in a patient. Chaperones can be useful biomarkers for disease diagnosis and monitoring, including evaluation of prognosis and response to treatment. This and the potential of chaperones for therapy, i.e., chaperonotherapy, are aspects of chaperonology also outlined in the chapter.

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Further Reading

Sections 1.1–1.5 Stress and Anti-Stress Mechanisms, Including Molecular Chaperones and Their Associated Pathologies

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CHAPERONES IN THE MAINTENANCE OF PROTEIN HOMEOSTASIS Protein Folding, Protection from Aggregation, Dissolution of Protein Aggregates, Refolding, Translocation, Degradation, Namely, Chaperones in Protein Quality Control

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Chaperones and Autophagy

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Mitochondrial Chaperones

Endoplasmic Reticulum (ER) Chaperones and ER-Associated Degradation (ERAD)

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Dedicated Chaperones

Histone Chaperones

Extracellular Chaperones

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Sections 1.6–1.7 CHAPERONES AS CLINICALY USEFUL BIOMARKERS

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Colon Cancer

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Lung Cancer

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Prostate Cancer

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Cardiovascular Disease

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Inflammatory Bowel Disease

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Sections 1.8 and 1.10 Chaperonotherapy and the Future

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Pharmacological Chaperones

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Chaperone Inhibitors

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Archaeal and Eukaryal Chaperones are evolutionary related and similar. Hence, Archaea have potential as experimental models simpler and, thus, more Amenable to dissection and analysis than Eukaryotic counterparts to study human Chaperones and the effect of mutations on them

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Authors and Affiliations

  1. Department of Microbiology and Immunology, School of Medicine, University of Maryland, Baltimore, Baltimore, MD, USA

    Alberto J.L Macario & Everly Conway de Macario

  2. Istituto EuroMediterraneo di Scienza e Tecnologia (IEMEST), Palermo, Italy

    Alberto J.L Macario

  3. Institute of Marine and Environmental Technology (IMET), Columbus Center, 701 East Pratt Street, Baltimore, MD, 21202, USA

    Alberto J.L Macario & Everly Conway de Macario

  4. Sezione di Anatomia Umana, Dipartimento di Biomedicina Sperimentale e Neuroscienze Cliniche, Università degli Studi di Palermo, via del Vespro 129, Palermo, 90127, Italy

    Francesco Cappello

  5. Istituto EuroMediterraneo di Scienza e Tecnologia (IEMEST), Palermo, Italy

    Francesco Cappello

Authors
  1. Alberto J.L Macario
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  2. Everly Conway de Macario
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  3. Francesco Cappello
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Correspondence to Alberto J.L Macario .

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Macario, A.J., Conway de Macario, E., Cappello, F. (2013). Overview and Book Plan. In: The Chaperonopathies. SpringerBriefs in Biochemistry and Molecular Biology. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-4667-1_1

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