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    Thorax. 2004 Jun;59(6):529-35.

    Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology.

    Lomas DA, Parfrey H.

    Source

    Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK. dal16@cam.ac.uk

    Abstract

    The molecular basis of alpha(1)-antitrypsin deficiency is reviewed and is shown to be due to the accumulation of mutant protein as ordered polymers within the endoplasmic reticulum of hepatocytes. The current goals are to determine the cellular response to polymeric alpha(1)-antitrypsin and to develop therapeutic strategies to block polymerisation in vivo.

    PMID:
    15170041
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC1747018
    Free PMC Article

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