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Select item 57974721.

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

Kenneth R Chapman, Joanna Chorostowska-Wynimko, A Rembert Koczulla, Ilaria Ferrarotti, Noel G McElvaney

Int J Chron Obstruct Pulmon Dis. 2018; 13: 419–432. Published online 2018 Jan 31. doi: 10.2147/COPD.S149429

PMCID:: PMC5797472

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Select item 94889332.

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

Marc Miravitlles, Mike Herepath, Asim Priyendu, Sheetal Sharma, Tatiana Vilchez, Oliver Vit, Michaela Haensel, Virginie Lepage, Helena Gens, Timm Greulich

Eur Respir Rev. 2022 Mar 31; 31(163): 210262. Published online 2022 Mar 23. doi: 10.1183/16000617.0262-2021

PMCID:: PMC9488933

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Select item 80863833.

COVID-19 infection in severe Alpha 1-antitrypsin deficiency: Looking for a rationale

I. Ferrarotti, S. Ottaviani, A.M. Balderacchi, V. Barzon, A. De Silvestri, D. Piloni, F. Mariani, A.G. Corsico

Respir Med. 2021 Jul; 183: 106440. Published online 2021 Apr 30. doi: 10.1016/j.rmed.2021.106440

PMCID:: PMC8086383

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Select item 58706374.

Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT)

Cristina Esquinas, Sonia Serreri, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Casas-Maldonado, Ignacio Blanco, Pietro Pirina, Beatriz Lara, Marc Miravitlles

Int J Chron Obstruct Pulmon Dis. 2018; 13: 1001–1007. Published online 2018 Mar 23. doi: 10.2147/COPD.S155226

PMCID:: PMC5870637

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Select item 78577175.

Non-Invasive Assessment and Management of Liver Involvement in Adults With Alpha-1 Antitrypsin Deficiency

Karim Hamesch, Pavel Strnad

Chronic Obstr Pulm Dis. 2020; 7(3): 260–271. Published online 2020 Jun 29. doi: 10.15326/jcopdf.7.3.2019.0161

PMCID:: PMC7857717

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Select item 89834846.

Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency-associated associated lung disease: a look at future precision medicine approaches

Auyon J. Ghosh, Brian D. Hobbs

Expert Rev Respir Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Expert Rev Respir Med. 2022 Feb; 16(2): 173–182. Published online 2022 Jan 13. doi: 10.1080/17476348.2022.2027755

PMCID:: PMC8983484

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Select item 77455217.

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

Syed Hamza Abbas, Elisha Pickett, David A Lomas, Douglas Thorburn, Bibek Gooptu, John R Hurst, Aileen Marshall

BMJ Open Respir Res. 2020; 7(1): e000820. Published online 2020 Dec 15. doi: 10.1136/bmjresp-2020-000820

PMCID:: PMC7745521

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Select item 44906748.

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

Nerea Matamala, Maria Teresa Martínez, Beatriz Lara, Laura Pérez, Irene Vázquez, Azucena Jimenez, Miguel Barquín, Ilaria Ferrarotti, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado

J Transl Med. 2015; 13: 211. Published online 2015 Jul 4. doi: 10.1186/s12967-015-0585-y

PMCID:: PMC4490674

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Select item 41944199.

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QO_Madrid

Beatriz Lara, Maria Teresa Martínez, Ignacio Blanco, Cristina Hernández-Moro, Eladio A Velasco, Ilaria Ferrarotti, Francisco Rodriguez-Frias, Laura Perez, Irene Vazquez, Javier Alonso, Manuel Posada, Beatriz Martínez-Delgado

Respir Res. 2014; 15(1): 125. Published online 2014 Oct 7. doi: 10.1186/s12931-014-0125-y

PMCID:: PMC4194419

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Select item 604221210.

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí

Orphanet J Rare Dis. 2018; 13: 114. Published online 2018 Jul 11. doi: 10.1186/s13023-018-0856-9

PMCID:: PMC6042212

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Select item 474293211.

Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization

Imran Haq, James A. Irving, Aarash D. Saleh, Louis Dron, Gemma L. Regan-Mochrie, Neda Motamedi-Shad, John R. Hurst, Bibek Gooptu, David A. Lomas

Am J Respir Cell Mol Biol. 2016 Jan; 54(1): 71–80. doi: 10.1165/rcmb.2015-0154OC

PMCID:: PMC4742932

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Select item 673445812.

An analysis of the degree of concordance among international guidelines regarding alpha-1 antitrypsin deficiency

Amy Attaway, Uddalak Majumdar, Robert A Sandhaus, Amy S Nowacki, James K Stoller

Int J Chron Obstruct Pulmon Dis. 2019; 14: 2089–2101. Published online 2019 Sep 5. doi: 10.2147/COPD.S208591

PMCID:: PMC6734458

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Select item 819888613.

The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant

Riccardo Ronzoni, Ilaria Ferrarotti, Emanuela D’Acunto, Alice M. Balderacchi, Stefania Ottaviani, David A. Lomas, James A. Irving, Elena Miranda, Annamaria Fra

Int J Mol Sci. 2021 Jun; 22(11): 5668. Published online 2021 May 26. doi: 10.3390/ijms22115668

PMCID:: PMC8198886

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Select item 551821014.

The pathological Trento variant of alpha‐1‐antitrypsin (E75V) shows nonclassical behaviour during polymerization

Elena Miranda, Ilaria Ferrarotti, Romina Berardelli, Mattia Laffranchi, Marta Cerea, Fabrizio Gangemi, Imran Haq, Stefania Ottaviani, David A. Lomas, James A. Irving, Annamaria Fra

FEBS J. 2017 Jul; 284(13): 2110–2126. Published online 2017 Jun 8. doi: 10.1111/febs.14111

PMCID:: PMC5518210

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Select item 673938015.

Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α₁-Antitrypsin Deficiency

Chiara Rigobello, Simonetta Baraldo, Mariaenrica Tinè, Ilaria Ferrarotti, Angelo Guido Corsico, Erica Bazzan, Graziella Turato, Elisabetta Balestro, Davide Biondini, Giorgio Valle, Marina Saetta, Manuel G. Cosio

Sci Rep. 2019; 9: 13088. Published online 2019 Sep 11. doi: 10.1038/s41598-019-49409-1

PMCID:: PMC6739380

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Select item 833272416.

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

José R Jardim, Francisco Casas-Maldonado, Frederico Leon Arrabal Fernandes, Maria Vera Cruz de O Castellano, María Torres-Durán, Marc Miravitlles

J Bras Pneumol. 2021 May-Jun; 47(3): e20200380. doi: 10.36416/1806-3756/e20200380

PMCID:: PMC8332724

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Select item 707304317.

Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways

Esra Karatas, Marion Bouchecareilh

Int J Mol Sci. 2020 Feb; 21(4): 1493. Published online 2020 Feb 21. doi: 10.3390/ijms21041493

PMCID:: PMC7073043

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Select item 945648018.

Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency

Valentina Barzon, Stefania Ottaviani, Alice Maria Balderacchi, Alessandra Corino, Davide Piloni, Giulia Accordino, Manuela Coretti, Francesca Mariani, Angelo Guido Corsico, Ilaria Ferrarotti

Int J Mol Sci. 2022 Sep; 23(17): 9859. Published online 2022 Aug 30. doi: 10.3390/ijms23179859

PMCID:: PMC9456480

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Select item 819286819.

Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency

Esra Karatas, Anne-Aurélie Raymond, Céline Leon, Jean-William Dupuy, Sylvaine Di-Tommaso, Nathalie Senant, Sophie Collardeau-Frachon, Mathias Ruiz, Alain Lachaux, Frédéric Saltel, Marion Bouchecareilh

JHEP Rep. 2021 Aug; 3(4): 100297. Published online 2021 Apr 24. doi: 10.1016/j.jhepr.2021.100297