TY - JOUR
T1 - Review
T2 - α1-Antitrypsin deficiency associated liver disease
AU - Qu, Dongfeng
AU - Teckman, Jeffrey H.
AU - Perlmutter, David H.
PY - 1997
Y1 - 1997
N2 - α-Antitrypsin (α1-AT) deficiency is the most common genetic cause of liver disease in children and genetic disease for which children undergo liver transplantation. It also causes cirrhosis and hepatocellular carcinoma in adults. Studies by Sveger in Sweden have shown that only a subgroup of the population with homozygous PiZZ α1-AT deficiency develop clinically significant liver injury. Other studies have shown that the mutant α1-AT Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of α1-AT-deficient individuals may be susceptible to liver injury because they also have a trait that reduces the efficiency by which the mutant α1-AT Z molecule is degraded in the endoplasmic reticulum.
AB - α-Antitrypsin (α1-AT) deficiency is the most common genetic cause of liver disease in children and genetic disease for which children undergo liver transplantation. It also causes cirrhosis and hepatocellular carcinoma in adults. Studies by Sveger in Sweden have shown that only a subgroup of the population with homozygous PiZZ α1-AT deficiency develop clinically significant liver injury. Other studies have shown that the mutant α1-AT Z molecule undergoes polymerization in the endoplasmic reticulum and that a subpopulation of α1-AT-deficient individuals may be susceptible to liver injury because they also have a trait that reduces the efficiency by which the mutant α1-AT Z molecule is degraded in the endoplasmic reticulum.
KW - endoplasmic reticulum degradation
KW - liver disease
UR - http://www.scopus.com/inward/record.url?scp=0030922043&partnerID=8YFLogxK
U2 - 10.1111/j.1440-1746.1997.tb00451.x
DO - 10.1111/j.1440-1746.1997.tb00451.x
M3 - Review article
C2 - 9195389
AN - SCOPUS:0030922043
SN - 0815-9319
VL - 12
SP - 404
EP - 416
JO - Journal of Gastroenterology and Hepatology (Australia)
JF - Journal of Gastroenterology and Hepatology (Australia)
IS - 5
ER -