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Clinical implications of the SERPINA1 variant, M, and alpha-1 antitrypsin deficiency in Türkiye.
BMC Pulm Med
December 2024
School of Medicine, Department of Chest Diseases, Recep Tayyip Erdoğan University, Rize, Turkey.
Background: Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified. Despite these findings and recommendations from major healthcare organizations, testing of COPD patients and their family members for AATD remains inadequate.
View Article and Find Full Text PDFCOVID-19 in Individuals with Severe Alpha 1-Antitrypsin Deficiency.
Int J Chron Obstruct Pulmon Dis
December 2024
Department of Clinical Sciences, Lund University, Lund, Sweden.
Background: The risk of coronavirus (COVID-19) can be affected by the presence of certain chronic conditions. It is unknown if individuals with severe hereditary alpha-1-antitrypsin deficiency (AATD) faced an increased risk of severe COVID-19 infection during the pandemic and if COPD in this population affected the risk of severe COVID-19 outcomes.
Aim: Our aim was to investigate COVID-19 outcomes in individuals with severe AATD and to identify if COPD was a risk factor for severe disease.
Alpha-1 Antitrypsin Inclusions Sequester GRP78 in a Bile Acid-Inducible Manner.
Liver Int
January 2025
Medical Department III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen, Aachen, Germany.
Background And Aims: The homozygous PiZ mutation (PIZZ genotype) constitutes the predominant cause of severe alpha-1 antitrypsin (AAT) deficiency and leads to liver disease via hepatocellular AAT aggregation. We systematically analysed the composition of AAT aggregates and studied the impact of bile acids.
Methods: AAT inclusions were isolated from livers of PiZ overexpressing mice and PIZZ humans via fluorescence-activated and immunomagnetic sorting (FACS/MACS), while insoluble proteins were obtained via Triton-X extraction.
Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.
J Bras Pneumol
December 2024
. Vall d'Hebron Institut de Recerca - VHIR - Hospital Universitário Valld'Hebron, Barcelona, España.
Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed.
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