TAILIEUCHUNG - Báo cáo khoa hoc : Unravelling the twists and turns of the serpinopathies

Members of the serine protease inhibitor (serpin) superfamily are found in all branches of life and play an important role in the regulation of enzymes involved in proteolytic cascades. Mutants of the serpins result in a delay in folding, with unstable intermediates being cleared by endoplasmic reticu-lum-associated degradation. | IFEBS Journal REVIEW ARTICLE Unravelling the twists and turns of the serpinopathies Benoit D. Roussel1 James A. Irving1 Ugo I. Ekeowa1 Didier Belorgey1 Imran Haq1 Adriana Ordonez1 Antonina J. Kruppa1 Annelyse Duvoix1 Sheikh Tamir Rashid1 2 Damian C. Crowther1 3 Stefan J. Marciniak1 and David A. Lomas1 1 Department of Medicine University of Cambridge Cambridge Institute for MedicalResearch Wellcome Trust MRC Building UK 2 Laboratory for Regenerative Medicine West Forvie Building University of Cambridge UK 3 Department of Genetics University of Cambridge UK Keywords conformational disease neuroserpin serpins therapies a1-antitrypsin Correspondence D. Lomas Department of Medicine University of Cambridge Cambridge Institute for MedicalResearch Wellcome Trust MRC Building Hills Road Cambridge CB2 0XY UK Fax 44 0 1223 336827 Tel 44 0 1223 762818 E-mail dal16@ Received 31 March 2011 revised 24 May 2011 accepted 27 May 2011 doi Members of the serine protease inhibitor serpin superfamily are found in all branches of life and play an important role in the regulation of enzymes involved in proteolytic cascades. Mutants of the serpins result in a delay in folding with unstable intermediates being cleared by endoplasmic reticulum-associated degradation. The remaining protein is either fully folded and secreted or retained as ordered polymers within the endoplasmic reticulum of the cell of synthesis. This results in a group of diseases termed the serpinopathies which are typified by mutations of a1-antitrypsin and neu-roserpin in association with cirrhosis and the dementia familial encephalopathy with neuroserpin inclusion bodies respectively. Current evidence strongly suggests that polymers of mutants of a1-antitrypsin and neuroser-pin are linked by the sequential insertion of the reactive loop of one molecule into b-sheet A of another. The ordered structure of the polymers within the endoplasmic reticulum stimulates nuclear .

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