PMID: 8949968Oct 1, 1996Paper

Alpha-1-antitrypsin deficiency: biochemistry and clinical manifestations

Annals of Medicine
D H Perlmutter

Abstract

Alpha-1-antitrypsin (alpha 1-AT) deficiency is a well known cause of emphysema in adults. A subgroup of deficient individuals develops liver injury during infancy and childhood. In fact, it is the most common genetic cause of liver disease in children. Although lung injury is due to the decrease in alpha 1-AT function in the lung, allowing uninhibited elastolytic destruction of its connective tissue integrity, liver injury is probably due to retention of the mutant alpha 1-AT molecule in the endoplasmic reticulum (ER) of liver cells. Recent studies have shown that the mutant alpha 1-AT molecule polymerizes in the ER by a novel loop-sheet insertion mechanism. Other recent studies show that the subgroup of deficient individuals is susceptible to liver injury by virtue of unlinked genetic traits and/or environmental factors which interfere with degradation of the mutant alpha 1-AT molecules within the ER.

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Citations

Jan 29, 2000·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·R L Carithers
Jun 15, 2006·Amino Acids·E KarnaukhovaB Golding
Mar 3, 2006·Current Gastroenterology Reports·Jeffrey H Teckman, Douglas Lindblad
Nov 3, 2001·Matrix Biology : Journal of the International Society for Matrix Biology·J VrankaH P Bächinger
Apr 13, 2005·Respirology : Official Journal of the Asian Pacific Society of Respirology·Cheol Hyeon KimYoung-Soo Shim
Mar 27, 2002·The British Journal of Ophthalmology·S C WongJ N Fordham
Jan 26, 2010·World Journal of Biological Chemistry·Wen-Xing Ding
Jun 30, 2015·Expert Opinion on Therapeutic Patents·Yung-Fong Tsai, Tsong-Long Hwang
Aug 30, 2005·Critical Reviews in Biochemistry and Molecular Biology·Eelco van Anken, Ineke Braakman
Dec 31, 1997·Mayo Clinic Proceedings·K N Lazaridis, P S Kamath
Mar 1, 2007·Journal of Ultrasound·M RossiP B Berloco
Apr 19, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·Dina N GreeneRong Mao
Jun 27, 2007·Laboratory Investigation; a Journal of Technical Methods and Pathology·Pedro E CruzTerence R Flotte
Apr 3, 1999·The Journal of Biological Chemistry·S M Van PattenT Edmunds
Aug 30, 2017·Frontiers in Pharmacology·Kailash C PandeyPradyumna K Mishra
Dec 3, 1999·Science·L EllgaardA Helenius

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