|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The presence of the homozygous 'Pi*Z' variant of alpha-1 antitrypsin (AAT) ('Pi*ZZ' genotype) predisposes to liver fibrosis development, but the role of iron metabolism in this process remains unknown.
|
31717526 |
2019 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
4','5-(Methylenedioxy)-2-nitrocinnamic acid was predicted to bind cleaved alpha 1-antitrypsin at the polymerization interface, and observed to co-localize with Z-hAAT, increase Z-hAAT degradation, inhibit intracellular accumulation of Z-hAAT, and alleviate liver fibrosis.
|
31817705 |
2019 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis.
|
31517326 |
2019 |
|
SERPINA1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our single dose therapeutic gene editing approach completely reverted the phenotype associated with the PiZ mutation, including circulating transaminase and human AAT (hAAT) protein levels, liver fibrosis and protein aggregation.
|
29500128 |
2018 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
These mice effectively recapitulate the liver disease exhibited in AATD patients, including AAT protein aggregates, hepatocyte death, and eventual liver fibrosis.
|
28752452 |
2017 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Limited data exist on the clinical presentation and non-invasive detection of liver fibrosis in adults with homozygous Z genotype alpha-1 antitrypsin (AAT) deficiency.
|
27279429 |
2016 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Ni(ii) ions cleave and inactivate human alpha-1 antitrypsin hydrolytically, implicating nickel exposure as a contributing factor in pathologies related to antitrypsin deficiency.
|
25579632 |
2015 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
PiZ mice exhibit many AATD symptoms, including AAT protein aggregates, increased hepatocyte death, and liver fibrosis.
|
24355919 |
2014 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our recent study indicates that an autophagy enhancer drug can decrease the hepatic load of mutant AT and reduce hepatic fibrosis in a mouse model of AT deficiency.
|
21683248 |
2011 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In recent studies we found that carbamazepine, a drug that has been used safely as an anticonvulsant and mood stabilizer, reduces the hepatic load of mutant AT and hepatic fibrosis in a mouse model by enhancing autophagic disposal of this mutant protein.
|
21421920 |
2011 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model.
|
20511674 |
2010 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency.
|
3485248 |
1986 |
|
SERPINA1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since MZ heterozygotes are almost always, and MS phenotypes sometimes, associated with decreased serum alpha 1-AT levels, and since Z and MZ phenotypes are associated with increased hepatic fibrosis or cirrhosis, these variants may be relevant to problems of spontaneous fibrosis or methotrexate-induced hepatotoxicity in psoriasis. alpha 1-AT deficiency may also contribute to guttate flares with infection and to increased O-2 . production by psoriatic sera-stimulated polymorphonuclear leukocytes (PMNs).
|
6333440 |
1984 |