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Unbound Medicine.
(alpha1 proteinase inhibitor human)
13,353 results
  • Capturing the conversion of the pathogenic alpha-1-antitrypsin fold by ATF6 enhanced proteostasis. [Journal Article]
    Cell Chem Biol. 2023 Jan 19; 30(1):22-42.e5.Sun S, Wang C, … Balch WE
  • Genetic variation in alpha-1 antitrypsin (AAT) causes AAT deficiency (AATD) through liver aggregation-associated gain-of-toxic pathology and/or insufficient AAT activity in the lung manifesting as chronic obstructive pulmonary disease (COPD). Here, we utilize 71 AATD-associated variants as input through Gaussian process (GP)-based machine learning to study the correction of AAT folding and functi…
  • New variants of alpha-1-antitrypsin: structural simulations and clinical expression. [Journal Article]
    Respir Res. 2022 Dec 10; 23(1):339.Gonzalez A, Belmonte I, … Esquinas C
  • CONCLUSIONS: The results characterize five variants, four of them previously unknown, of the SERPINA1 gene, which define new alleles contributing to the deficiency of AAT. Rare variants might be more frequent than expected, and therefore, in discordant cases, standardized screening of the S and Z alleles needs complementation with gene sequencing and structural approaches. The utility of computational modelling for providing supporting evidence of the pathogenicity of rare single nucleotide variations is discussed.
  • Proteolysis and Deficiency of α1-Proteinase Inhibitor in SARS-CoV-2 Infection. [Journal Article]
    Biochem Mosc Suppl B Biomed Chem. 2022; 16(4):271-291.Akbasheva OE, Spirina LV, … Masunova NV
  • The SARS-CoV-2 pandemic had stimulated the emergence of numerous publications on the α1-proteinase inhibitor (α1-PI, α1-antitrypsin), especially when it was found that the regions of high mortality corresponded to the regions with deficient α1-PI alleles. By analogy with the data obtained in the last century, when the first cause of the genetic deficiency of α1-antitrypsin leading to elastase act…
  • Modifying a bacterial tyrosinase zymogen for use in protease activity assays. [Journal Article]
    Appl Microbiol Biotechnol. 2022 Dec; 106(24):8285-8294.Zhang J, Huang W, … Zou L
  • Current clinical laboratory assays are not sufficient for determining the activity of many specific human proteases yet. In this study, we developed a general approach that enables the determination of activities of caspase-3 based on the proteolytic activation of the engineered zymogen of the recombinant tyrosinase from Verrucomicrobium spinosum (Vs-tyrosinase) by detecting the diphenolase activ…
  • [Alpha-1 antitrypsin deficiency]. [Journal Article]
    Rev Med Suisse. 2022 Nov 16; 18(804):2169-2174.Marando M, Rayroux C, Bergeron A
  • Alpha-1 antitrypsin deficiency (DAAT) is a rare autosomal recessive genetic disorder caused by mutations in the Serpina1 gene. The role of alpha-1 antitrypsin (A1AT) is to maintain homeostasis in the acute phase of inflammation. DAAT manifests itself primarily in carriers of the Z allele, especially in the homozygous state, as emphysema and chronic liver disease. Although the diagnostic strategy …
  • Self-Amplifying RNA Approach for Protein Replacement Therapy. [Review]
    Int J Mol Sci. 2022 Oct 25; 23(21)Papukashvili D, Rcheulishvili N, … Wang PG
  • Messenger RNA (mRNA) technology has already been successfully tested preclinically and there are ongoing clinical trials for protein replacement purposes; however, more effort has been put into the development of prevention strategies against infectious diseases. Apparently, mRNA vaccine approval against coronavirus disease 2019 (COVID-19) is a landmark for opening new opportunities for managing …
  • Human Alpha 1 Antitrypsin Suppresses NF-κB Activity and Extends Lifespan in Adult Drosophila. [Journal Article]
    Biomolecules. 2022 Sep 22; 12(10)Yuan Y, Van Belkum M, … Song S
  • Human alpha 1 antitrypsin (hAAT) is a multifunctional protein that has been shown to have anti-inflammatory and cellular protective properties. While previous studies demonstrated the antiaging potential of hAAT, the mechanism(s) underlying the antiaging effect remain elusive. In this study, we performed a detailed analysis of transcriptomic data that indicated that NF-κB-targeted genes and NF-κB…
  • Lung cancer risk in workers occupationally exposed to polycyclic aromatic hydrocarbons with emphasis on the role of DNA repair gene. [Journal Article]
    Int Arch Occup Environ Health. 2022 Oct 26 [Online ahead of print]Moubarz G, Saad-Hussein A, … Abo-Elfadl MT
  • CONCLUSIONS: Therefore, we conclude that aluminum workers may be at a potential risk of lung cancer development due to PAHs exposure. Although PAHs concentrations in air were within the permissible limits, yet evidence of DNA damage was present as expressed by high BPDE-albumin adduct level in exposed workers. Also, elevation of tumor markers (SCCAg and CCNB1) in exposed workers points to the importance of periodic biological monitoring of such workers to protect them from cancer risk.
  • Characterization of hepatic inflammatory changes in a C57BL/6J mouse model of alpha1-antitrypsin deficiency. [Journal Article]
    Am J Physiol Gastrointest Liver Physiol. 2022 12 01; 323(6):G594-G608.Khodayari N, Oshins R, … Brantly M
  • Alpha-1 antitrypsin deficiency (AATD) is a genetic disease caused by a hepatic accumulation of mutant alpha-1 antitrypsin (ZAAT). Individuals with AATD are prone to develop a chronic liver disease that remains undiagnosed until late stage of the disease. Here, we sought to characterize the liver pathophysiology of a human transgenic mouse model for AATD with a manifestation of liver disease compa…
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