Molecular basis of alpha-1-antitrypsin deficiency

M Brantly, T Nukiwa, RG Crystal - The American journal of medicine, 1988 - Elsevier
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder associated with a
major reduction in serum A1AT levels. Clinically, A1AT deficiency is associated with …

Diagnosis of α-1-antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping

MR Snyder, JA Katzmann, ML Butz, P Yang… - Clinical …, 2006 - academic.oup.com
Background: Laboratory testing in suspected α-1-antitrypsin (A1AT) deficiency involves
analysis of A1AT concentrations and identification of specific alleles by genotyping or …

Alpha‐1 antitrypsin deficiency: a conformational disease associated with lung and liver manifestations

CM Greene, SDW Miller, T Carroll… - Journal of Inherited …, 2008 - Wiley Online Library
Summary Alpha‐1 antitrypsin (A1AT) is a serine anti‐protease produced chiefly by the liver.
A1AT deficiency is a genetic disorder characterized by serum levels of less than 11 μmol/L …

Alpha1-Antitrypsin Deficiency

P Strnad, NG McElvaney… - New England Journal of …, 2020 - Mass Medical Soc
Alpha1-Antitrypsin Deficiency AAT is a protease inhibitor targeting neutrophil elastase. It
prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT …

Serum α1-antitrypsin deficiency associated with the common S-type (Glu264→ Val) mutation results from intracellular degradation of α1-antitrypsin prior to secretion

DT Curiel, A Chytil, M Courtney, RG Crystal - Journal of Biological …, 1989 - ASBMB
The S-type α1-antitrypsin (α1AT) deficiency allele differs from the normal M1 (Val 213) allele
by a single amino acid substitution (Glu 264→ Val). To evaluate the molecular …

A frameshift mutation results in a truncated alpha 1-antitrypsin that is retained within the rough endoplasmic reticulum.

RN Sifers, S Brashears-Macatee, VJ Kidd… - Journal of Biological …, 1988 - ASBMB
The major physiological role of the serine protease inhibitor alpha 1-antitrypsin (alpha 1-AT)
is to protect elastic fibers in the lung from excessive hydrolysis by neutrophil elastase …

The current status of α-1-antitrypsin, a protease inhibitor, in gastrointestinal disease

HL Sharp - Gastroenterology, 1976 - Elsevier
Extremely deficient levels of α-1-antitrypsin (α1AT) predispose such deficientindividuals to
the development of emphysema and cirrhosis. Protease inhibitor (Pi) typing has clarified that …

Role of alpha‐1 antitrypsin in human health and disease

F De Serres, I Blanco - Journal of internal medicine, 2014 - Wiley Online Library
Abstract Alpha‐1 antitrypsin (AAT) deficiency is an under‐recognized hereditary disorder
associated with the premature onset of chronic obstructive pulmonary disease, liver cirrhosis …

Multiple tissues express alpha 1-antitrypsin in transgenic mice and man.

JA Carlson, BB Rogers, RN Sifers… - The Journal of …, 1988 - Am Soc Clin Investig
Hepatocytes are considered to be the predominant source of alpha 1-antitrypsin (AAT), the
major antiprotease in human plasma. The development of emphysema in the hereditary PiZ …

Alpha-1-antitrypsin deficiency

DW Cox - Pediatric Liver Disease, 1983 - Springer
Abstract Alpha-1-antitrypsin (α 1 AT) is one of several protease inhibitors in serum which
together control proteases involved in such vital processes as activation of the clotting …