TY - JOUR
T1 - Liver injury in alpha1-antitrypsin deficiency
AU - Perlmutter, D. H.
N1 - Funding Information:
Studies from the author's laboratory were supported in part by US PHS HL37784, DK52526, and DK56783.
PY - 2000
Y1 - 2000
N2 - Alpha1-antitrypsin deficiency is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease, hepatocellular carcinoma, and pulmonary emphysema in adults. Liver injury is caused by hepatotoxic effects of retention of the mutant alpha1-antitrypsin molecule within the endoplasmic reticulum of liver cells, and emphysema is caused by uninhibited proteolytic damage to elastic tissue in the lung parenchyma. Recent studies of the biochemistry and cell biology of the mutant alpha1-antitrypsin molecule have led to advances in understanding susceptibility to liver injury and in developing new strategies for prevention of both liver and lung disease.
AB - Alpha1-antitrypsin deficiency is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease, hepatocellular carcinoma, and pulmonary emphysema in adults. Liver injury is caused by hepatotoxic effects of retention of the mutant alpha1-antitrypsin molecule within the endoplasmic reticulum of liver cells, and emphysema is caused by uninhibited proteolytic damage to elastic tissue in the lung parenchyma. Recent studies of the biochemistry and cell biology of the mutant alpha1-antitrypsin molecule have led to advances in understanding susceptibility to liver injury and in developing new strategies for prevention of both liver and lung disease.
UR - http://www.scopus.com/inward/record.url?scp=0033926567&partnerID=8YFLogxK
U2 - 10.1016/S1089-3261(05)70115-X
DO - 10.1016/S1089-3261(05)70115-X
M3 - Article
C2 - 11232197
AN - SCOPUS:0033926567
SN - 1089-3261
VL - 4
SP - 387
EP - 408
JO - Clinics in Liver Disease
JF - Clinics in Liver Disease
IS - 2
ER -