Rapid Screening for α1-Antitrypsin Z and S Mutations,
نویسندگان
چکیده
منابع مشابه
Molecular Mechanism of Z α1-Antitrypsin Deficiency*
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes intracellular polymerization of nascent Z α1-AT and why 15% of the expressed Z α1-AT is secreted in...
متن کاملAppropriateness of Newborn Screening for α1-Antitrypsin Deficiency
OBJECTIVE The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS A review of natural history and technical data was conducted. RESULTS Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT defic...
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AIMS The ATZ11 antibody has been well established for the identification of α1-anti-trypsin (AAT) molecule type PiZ (Z-AAT) in blood samples and liver tissue. In this study, we systematically analyzed the antibody for additional binding sites in human tissue. METHODS AND RESULTS Ultrastructural ATZ11 binding was investigated immunoelectron microscopically in human umbilical vein endothelial c...
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The development of preclinical models amenable to live animal bioactive compound screening is an attractive approach to discovering effective pharmacological therapies for disorders caused by misfolded and aggregation-prone proteins. In general, however, live animal drug screening is labor and resource intensive, and has been hampered by the lack of robust assay designs and high throughput work...
متن کاملAugmentation treatment for α1 antitrypsin deficiency.
www.thelancet.com Published online May 28, 2015 http://dx.doi.org/10.1016/S0140-6736(15)60036-8 1 α1 antitrypsin is a serine antiprotease secreted by the liver. Its main function is inhibition of neutrophil elastase, a non-specifi c protease released by activated or dying neutrophils. In individuals with healthy concentrations of α1 antitrypsin, the fragile alveolar structures of the lung paren...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1997
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/43.2.403