Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers

Autor: Mattias Mandorfer, Nadine T. Gaisa, Christian Trautwein, Jef Verbeek, Helmut Denk, Daniel Neureiter, Elmar Aigner, Julia Kümpers, Heinz Zoller, Barbara Burbaum, LS Moeller, Heike Bantel, Olivier Govaere, Federica Benini, Joanna Chorostowska-Wynimko, Aleksander Krag, Frank Lammert, Jacob George, Katharina Wöran, Thomas Reiberger, Georg Lurje, Marla Gutberlet, Felix Stickel, Lisa Bewersdorf, Michael Trauner, Mohammed Eslam, V Woditsch, Sabina Janciauskiene, Tania Roskams, V Pereira, Johannes Haybaeck, J. Voss, Karim Hamesch, C Lindhauer, Annika Gross, Andreas Geier, Mònica Pons, Malin Fromme, Alexander Teumer, Quentin M. Anstee, Joan Genescà, Matthias C. Reichert, Biaohuan Zhou, Pawel Kuca, Marcin Krawczyk, Carolin V. Schneider, Pavel Strnad, Timm Dirrichs, Christian Datz, Joana Carvão, Robert Bals, Frederik Nevens, Benedikt Schäfer

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Schneider, C V, Hamesch, K, Gross, A, Mandorfer, M, Moeller, L S, Pereira, V, Pons, M, Kuca, P, Reichert, M C, Benini, F, Burbaum, B, Voss, J, Gutberlet, M, Woditsch, V, Lindhauer, C, Fromme, M, Kümpers, J, Bewersdorf, L, Schäfer, B, Eslam, M, Bals, R, Janciauskiene, S, Carvão, J, Neureiter, D, Zhou, B, Wöran, K, Bantel, H, Geier, A, Dirrichs, T, Stickel, F, Teumer, A, Verbeek, J, Nevens, F, Govaere, O, Krawczyk, M, Roskams, T, Haybaeck, J, Lurje, G, Chorostowska-Wynimko, J, Genesca, J, Reiberger, T, Zoller, H, Lammert, F, Krag, A, George, J, Anstee, Q M, Trauner, M, Datz, C, Gaisa, N T, Denk, H & European Alpha-1 Liver Study Group 2020, ' Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers ', Gastroenterology, vol. 159, no. 2, pp. 534-548.e11 . https://doi.org/10.1053/j.gastro.2020.04.058

BACKGROUND & AIMS: Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ gen

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Die Augmentation mit Alpha1-Antitrypsin assoziiert bei Patienten mit klassischem Alpha1-Antitrypsin-Mangel (Pi*ZZ-Genotyp) mit besseren Leber-Parametern

Autor: C Lindhauer, Federica Benini, Joanna Chorostowska-Wynimko, Robert Bals, Frank Lammert, M Miravittles, Georg Lurje, LS Moeller, Joan Genescà, Pavel Strnad, Sabina Janciauskiene, V Pereira, Rembert Koczulla, Carolin V. Schneider, Mattias Mandorfer, Felix Stickel, William J.H. Griffiths, Mònica Pons, Aleksander Krag, J. Voss, Christian Trautwein, Matthias C. Reichert, Karim Hamesch, Malin Fromme, M. Trauner, Elmar Aigner, V Woditsch

Publikováno v: Hamesch, K, Schneider, C, Mandorfer, M, Moeller, L S, Pereira, V, Pons, M, Stickel, F, Reichert, M C, Woditsch, V, Voss, J, Lindhauer, C, Fromme, M, Lurje, G, Bals, R, Koczulla, R A, Chorostowska-Wynimko, J, Miravittles, M, Janciauskiene, S, Griffiths, W J, Lammert, F, Trautwein, C, Genescà, J, Aigner, E, Trauner, M, Krag, A & Strnad, P 2020, ' Die Augmentation mit Alpha1-Antitrypsin assoziiert bei Patienten mit klassischem Alpha1-Antitrypsin-Mangel (Pi*ZZ-Genotyp) mit besseren Leber-Parametern ', Zeitschrift fuer Gastroenterologie, bind 58, nr. 8, s. e158-e159 . https://doi.org/10.1055/s-0040-1716158

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69fe832a0d344a75296c44c590e224d7
https://portal.findresearcher.sdu.dk/da/publications/ab858e7f-5c2b-4d46-bb73-80e39511a14b

Mild Iron Overload as Seen in Individuals Homozygous for the Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver Fibrogenesis in HFE Knockout Mice

Autor: Pavel Strnad, C Lindhauer, Nurdan Guldiken, Christian Trautwein, Mahmoud Aly, Carolin V. Schneider, Karim Hamesch, Malin Fromme, Shari Malan Schuller

Publikováno v: Cells, Vol 8, Iss 11, p 1415 (2019)
Cells
Volume 8
Issue 11
Cells : open access journal 8(11), 1415 (2019). doi:10.3390/cells8111415 special issue: "Cellular and Molecular Mechanisms Underlying the Pathogenesis of Hepatic Fibrosis / Special Issue Editor: Prof. Ralf Weiskirchen, Guest Editor"

The presence of the homozygous &lsquo
Pi*Z&rsquo
variant of alpha-1 antitrypsin (AAT) (&lsquo
Pi*ZZ&rsquo
genotype) predisposes to liver fibrosis development, but the role of iron metabolism in this process remains unknown. Theref

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581edce430a03d7aecf18e0266e9c3d5

Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation

Autor: Karim Hamesch, I. Spivak, Sabina Janciauskiene, LS Moeller, Mario Bento-Miranda, Frank Lammert, Malin Fromme, Mònica Pons, Rodrigo Liberal, Pavel Strnad, Josef van Helden, Biaohuan Zhou, Michael Trauner, Eray Yagmur, Rui Gaspar, M Wetzel, Jan Stolk, Joan Genescà, Ravi Mahadeva, Rembert Koczulla, Carolin V. Schneider, A Arslanow, Thomas Reiberger, Aleksander Krag, William J.H. Griffiths, J. Voss, Nurdan Guldiken, Elmar Aigner, Christian Trautwein, Dalila Costa, Robert Bals, V Pereira, C Lindhauer, V Woditsch, Benedikt Schaefer, Carolina Simões, Heinz Zoller, Felix Stickel, Britta Siegmund, Marc Miravitlles, Matthias C. Reichert, Grace E. Dolman, Wolfgang Gleiber, Danilo Bzdok, Verena Knipel, Miriam Barrecheguren, Luís Maia, Mattias Mandorfer, Wolfram Windisch

Publikováno v: Hamesch, K, Mandorfer, M, Pereira, V M, Moeller, L S, Pons, M, Dolman, G E, Reichert, M C, Schneider, C V, Woditsch, V, Voss, J, Lindhauer, C, Fromme, M, Spivak, I, Guldiken, N, Zhou, B, Arslanow, A, Schaefer, B, Zoller, H, Aigner, E, Reiberger, T, Wetzel, M, Siegmund, B, Simões, C, Gaspar, R, Maia, L, Costa, D, Bento-Miranda, M, van Helden, J, Yagmur, E, Bzdok, D, Stolk, J, Gleiber, W, Knipel, V, Windisch, W, Mahadeva, R, Bals, R, Koczulla, R, Barrecheguren, M, Miravitlles, M, Janciauskiene, S, Stickel, F, Lammert, F, Liberal, R, Genesca, J, Griffiths, W J, Trauner, M, Krag, A, Trautwein, C, Strnad, P & European Alpha1-Liver Study Group 2019, ' Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation ', Gastroenterology, vol. 157, no. 3, pp. 705-719.e18 . https://doi.org/10.1053/j.gastro.2019.05.013
Gastroenterology, 157(3), 705-+. W B SAUNDERS CO-ELSEVIER INC

Background & Aims Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c589f8fd0ed2d082da4edb5e1cc42717
https://doi.org/10.1053/j.gastro.2019.05.013