Results 11 to 20 of about 410,523 (291)

Alpha-1 antitrypsin deficiency liver disease. [PDF]

Clinics in Liver Disease, 2021
The clinical presentation of liver disease is highly variable in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency, and not all patients with the homozygous ZZ genotype develop liver disease.
Dhiren Patel, Shannon L McAllister, J. Teckman   +2 more
semanticscholar   +4 more sources

Alpha-1-antitrypsin [PDF]

Reactions Weekly, 2020
Alpha-1-antitrypsin is encoded by the human SERPINA1 gene. This protein plays a role in regulation of proteolysis.

semanticscholar   +4 more sources

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency [PDF]

Orphanet Journal of Rare Diseases, 2018
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio   +10 more
doaj   +5 more sources

Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine CME, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Kelly, Emer, Greene, Catherine M, Carroll, Tomas P, McElvaney, Noel G, O'Neill, Shane J   +4 more
openaire   +5 more sources

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

The Application of Clinical Genetics, 2021
Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend.
S. Seixas, P. Marques
semanticscholar   +1 more source

Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency

Gut, 2021
Objective Alpha-1 antitrypsin deficiency (AATD) is a common, potentially lethal inborn disorder caused by mutations in alpha-1 antitrypsin (AAT).
M. Fromme, C. Schneider, V. Pereira, K. Hamesch, M. Pons, M. Reichert, F. Benini, P. Ellis, Katrine H Thorhauge, M. Mandorfer, B. Burbaum, V. Woditsch, J. Chorostowska-Wynimko, J. Verbeek, F. Nevens, J. Genescà, M. Miravitlles, Alexa Núñez, B. Schaefer, H. Zoller, S. Janciauskiene, N. Abreu, L. Jasmins, R. Gaspar, R. Liberal, G. Macedo, Ravi Mahadeva, C. Gomes, K. Schneider, M. Trauner, A. Krag, B. Gooptu, D. Thorburn, A. Marshall, J. Hurst, D. Lomas, F. Lammert, N. Gaisa, V. Clark, W. Griffiths, C. Trautwein, A. Turner, N. McElvaney, P. Strnad   +43 more
semanticscholar   +1 more source

Alpha-1 antitrypsin inhibits TMPRSS2 protease activity and SARS-CoV-2 infection

Nature Communications, 2021
SARS-CoV-2 is a respiratory pathogen and primarily infects the airway epithelium. As our knowledge about innate immune factors of the respiratory tract against SARS-CoV-2 is limited, we generated and screened a peptide/protein library derived from ...
Lukas Wettstein, Tatjana Weil, Carina Conzelmann, Janis A. Müller, R. Gross, M. Hirschenberger, Alina Seidel, S. Klute, Fabian Zech, Caterina Prelli Bozzo, Nico Preising, G. Fois, R. Lochbaum, P. Knaff, V. Mailänder, L. Ständker, D. Thal, C. Schumann, S. Stenger, A. Kleger, G. Lochnit, B. Mayer, Yasser B. Ruiz-Blanco, M. Hoffmann, K. Sparrer, S. Pöhlmann, Elsa Sánchez-García, F. Kirchhoff, M. Frick, J. Münch   +29 more
semanticscholar   +1 more source

Alpha 1 Antitrypsin is an Inhibitor of the SARS-CoV-2–Priming Protease TMPRSS2

Pathogens and Immunity, 2021
Background: Host proteases have been suggested to be crucial for dissemination of MERS, SARS-CoV, and SARS-CoV-2 coronaviruses, but the relative contribution of membrane versus intracellular proteases remains controversial.
N. Azouz, Andrea M. Klingler, V. Callahan, I. Akhrymuk, Katarina Elez, L. Raich, B. Henry, J. Benoit, S. Benoit, F. Noé, K. Kehn-Hall, M. Rothenberg   +11 more
semanticscholar   +1 more source

Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +5 more
doaj   +1 more source

Therapeutic Application of Alpha-1 Antitrypsin in COVID-19

medRxiv, 2021
Rationale: The treatment options for COVID-19 patients are sparse and do not show sufficient efficacy. Alpha-1-antitrypsin (AAT) is a multi-functional host-defense protein with anti-proteolytic and anti-inflammatory activities. Objectives: The aim of the
F. Ritzmann, Praneeth Chitirala, Nadine Krüger, M. Hoffmann, Wei Zuo, F. Lammert, S. Smola, N. Tov, N. Alagem, P. Lepper, S. Pöhlmann, C. Beisswenger, C. Herr, R. Bals   +13 more
semanticscholar   +1 more source