Results 11 to 20 of about 10,966 (204)

CSF SerpinA1 in Creutzfeldt–Jakob disease and frontotemporal lobar degeneration [PDF]

Annals of Clinical and Translational Neurology, 2020
Objective SerpinA1 (alpha‐1 antitrypsin) is an acute inflammatory protein, which seems to play a role in neurodegeneration and neuroinflammation. In Alzheimer’s disease and synucleinopathies, SerpinA1 is overexpressed in the brain and the cerebrospinal ...
Samir Abu‐Rumeileh, Steffen Halbgebauer, Petra Steinacker, Sarah Anderl‐Straub, Barbara Polischi, Albert C. Ludolph, Sabina Capellari, Piero Parchi, Markus Otto   +8 more
doaj   +4 more sources

Exogenous alpha 1-antitrypsin down-regulates SERPINA1 expression. [PDF]

PLoS ONE, 2017
The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema.
Ahmad Karadagi, Helene Johansson, Helen Zemack, Sandeep Salipalli, Lisa-Mari Mörk, Kristina Kannisto, Carl Jorns, Roberto Gramignoli, Stephen Strom, Knut Stokkeland, Bo-Göran Ericzon, Danny Jonigk, Sabina Janciauskiene, Greg Nowak, Ewa C S Ellis   +14 more
doaj   +4 more sources

SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency

Journal of Nucleic Acids, 2018
Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT.
Brendan Connolly, Cleo Isaacs, Lei Cheng, Kirtika H. Asrani, Romesh R. Subramanian   +4 more
doaj   +3 more sources

Case Report: Pseudomonas liver abscess in a previously healthy child with homozygous pathogenic S allele variant of the SERPINA1 gene [PDF]

Frontiers in Immunology
BackgroundPyogenic liver abscess is an uncommon pediatric condition, and Pseudomonas aeruginosa represents a rare causative agent in otherwise healthy children. Such infections may signal an underlying inborn error of immunity. Alpha-1 antitrypsin (A1AT),
Sanya Thomas, Sanya Thomas, Alaric W. D’Souza, Alaric W. D’Souza, Alaric W. D’Souza, Musaab Alhezam, Musaab Alhezam, Craig D. Platt, Craig D. Platt, Ofer Levy, Ofer Levy, Ofer Levy   +11 more
doaj   +2 more sources

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact [PDF]

Orphanet Journal of Rare Diseases
Alpha 1-Antitrypsin Deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene, which encodes the Alpha 1-Antitrypsin (AAT) protein.
Celine Leon, Marie-Françoise Odou, Bertrand Roquelaure, Louis Lebreton, Mathias Ruiz, Carolin Victoria Schneider, Celine Renoux, Aurélie Evrard, Malika Balduyck, Magali Dechomet, Christine Lombard, Mathilde Butori-Pepino, Kai Markus Schneider, Victor Marin, Sylvaine di-Tomasso, Cyril Dourthe, Jean-William Dupuy, Anne-Aurélie Raymond, Sophie Collardeau-Frachon, Aurélie Haffner, Radia Fritih, Emmanuelle Goubert, Vanna Geromel, Philippe Joly, Alexandre Fabre, Marion Bouchecareilh   +25 more
doaj   +2 more sources

Misfolding linked mutations of SERPINA1 gene are uncommon in preeclampsia

Archives of Medicine and Health Sciences, 2019
Background: Alpha-1 antitrypsin (A1AT) is a protease inhibitor that plays an important role in regulating oxidative stress in preeclampsia (PE). Recent studies have shown that A1AT is misfolded in PE.
Chandrakala Nagarajappa, Sheela Shikaripur Rangappa, Sharath Balakrishna   +2 more
doaj   +2 more sources

SERPINA1 methylation as a novel diagnostic marker for early-stage papillary thyroid carcinoma via MAPK6-AKT/mTOR pathway [PDF]

Clinical Epigenetics
Most thyroid nodules can be diagnosed preoperatively by ultrasonography and fine-needle aspiration biopsy. However, accurately differentiating between benign nodules or indolent thyroid tumors and aggressive thyroid cancers remains a significant clinical
Junjie Li, Haixia Huang, Yifei Yin, Yizhu Mao, Mengxia Li, Hong Li, Chenxia Jiang, Rongxi Yang   +7 more
doaj   +2 more sources

Genetic drivers of liver cirrhosis: The role of SERPINA1 and PNPLA3 variants in disease onset and progression. [PDF]

PLoS ONE
SERPINA1 Z and PNPLA3 G alleles are the most potent genetic risk modifiers in chronic liver disease (CLD) progression. We aimed to test the impact of concomitant carriage of these variants on the progression of CLDs of various aetiology.
Mikolas Holinka, Sona Frankova, Svetlana Adamcova Selcanova, Lubomir Skladany, Ondrej Fabian, Martin Kveton, Dusan Merta, Vera Adamkova, Jaroslav A Hubacek, Veronika Pitova, Sarka Vesela, Tomas Hucl, Milan Jirsa, Jan Sperl   +13 more
doaj   +2 more sources

A guide to selecting high-performing antibodies for Alpha-1-antitrypsin (UniProt ID: P01009) for use in western blot, immunoprecipitation and flow cytometry [version 1; peer review: 2 approved] [PDF]

F1000Research
Alpha-1-antitrypsin (A1AT), encoded by the SERPINA1 gene, is a circulating serine protease inhibitor that protects the lung from neutrophil elastase–mediated tissue damage.
Jemma Cooper, Katie Dixon, Bibek Gooptu, Harvinder Virk, Carolyn Jones, Michael Biddle   +5 more
doaj   +2 more sources

Altered polyadenylation site usage in SERPINA1 3’UTR in response to cellular stress affects A1AT protein expression [PDF]

Scientific Reports
Alternative polyadenylation results in different 3’ isoforms of messenger RNA (mRNA) transcripts. Alternative polyadenylation in the 3’ untranslated region (3’UTR) can alter RNA localization, stability and translational efficiency.
F. N. U. Jiamutai, Abigail Hatfield, Austin Herbert, Debarati Majumdar, Vijay Shankar, Lela Lackey   +5 more
doaj   +2 more sources