BIROn - Birkbeck Institutional Research Online

    The molecular and cellular pathology of α1-antitrypsin deficiency

    Gooptu, Bibek and Dickens, J.A. and Lomas, D.A. (2014) The molecular and cellular pathology of α1-antitrypsin deficiency. Trends in Molecular Medicine 20 (2), pp. 116-127. ISSN 1471-4914.

    Full text not available from this repository.

    Abstract

    Since its discovery 50 years ago, α1-antitrypsin deficiency has represented a case study in molecular medicine, with careful clinical characterisation guiding genetic, biochemical, biophysical, structural, cellular, and in vivo studies. Here we highlight the milestones in understanding the disease mechanisms and show how they have spurred the development of novel therapeutic strategies. α1-Antitrypsin deficiency is an archetypal conformational disease. Its pathogenesis demonstrates the interplay between protein folding and quality control mechanisms, with aberrant conformational changes causing liver and lung disease through combined loss- and toxic gain-of-function effects. Moreover, α1-antitrypsin exemplifies the ability of diverse proteins to self-associate into a range of morphologically distinct polymers, suggesting a mechanism for protein and cell evolution.

    Metadata

    Item Type: Article
    Keyword(s) / Subject(s): α1-antitrypsin deficiency, conformational disease, misfolding, protein evolution, emphysema, cirrhosis
    School: Birkbeck Schools and Departments > School of Science > Biological Sciences
    Research Centre: Structural Molecular Biology, Institute of (ISMB)
    Depositing User: Administrator
    Date Deposited: 14 Jan 2014 13:40
    Last Modified: 06 Dec 2016 10:42
    URI: http://eprints.bbk.ac.uk/id/eprint/8958

    Statistics

    Downloads
    Activity Overview
    0Downloads
    101Hits

    Additional statistics are available via IRStats2.

    Archive Staff Only (login required)

    Edit/View Item Edit/View Item