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Unbound Medicine.
(alpha1 antitrypsin)
5,234 results
  • Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests. [Review]
    Diagnostics (Basel). 2023 Jan 10; 13(2)Guillaud O, Dumortier J, … Ruiz M
  • Wilson disease and alpha1-antitrypsin deficiency are two rare genetic diseases that may impact predominantly the liver and/or the brain, and the liver and/or the lung, respectively. The early diagnosis of these diseases is important in order to initiate a specific treatment, when available, ideally before irreversible organ damage, but also to initiate family screening. This review focuses on the…
  • 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…
  • NET-borne elastase prevents inflammatory relapse in intercritical gout. [Journal Article]
    Arthritis Rheumatol. 2022 Dec 27 [Online ahead of print]Liu L, Shan L, … Martin H
  • CONCLUSIONS: ULT causes shrinkage of the tophi reflected by an increase of the level of serum cell-free DNA. In the resolution phase of murine tophi, the NET-associated neutrophil elastase degrades proinflammatory cytokines and, thus, ameliorates inflammation.
  • Surf4, cargo trafficking, lipid metabolism, and therapeutic implications. [Journal Article]
    J Mol Cell Biol. 2022 Nov 29 [Online ahead of print]Shen Y, Gu HM, … Zhang DW
  • Surfeit 4 is a polytopic transmembrane protein that primarily resides in the endoplasmic reticulum (ER) membrane. It is ubiquitously expressed and functions as a cargo receptor, mediating cargo transport from the ER and the Golgi apparatus via the canonical coat protein complex II (COPII)-coated vesicles or specific vesicles. It also participates in ER-Golgi protein trafficking through a tubular …
  • Alpha-1 antitrypsin expression is upregulated in multidrug-resistant cancer cells. [Journal Article]
    Histochem Cell Biol. 2022 Dec 19 [Online ahead of print]Divac Rankov A, Jovanović Stojanov S, … Ljujić M
  • Identification of the signature molecular profiles involved in therapy resistance is of vital importance in developing new strategies for treatments and disease monitoring. Protein alpha-1 antitrypsin (AAT, encoded by SERPINA1 gene) is an acute-phase protein, and its high expression has been linked with unfavorable clinical outcome in different types of cancer; however, data on its involvement in…
  • 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.
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