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Alpha1 Antitrypsin Deficiency

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Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Stefania Ottaviani, Valentina Barzon, Amaya Buxens, Marina Gorrini, Amaia Larruskain, Rachid El Hamss, Alice M Balderacchi, Angelo G Corsico, Ilaria Ferrarotti,

BACKGROUND:Alpha1-antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk to develop lung and liver diseases at an early age. AAT is encoded by the highly polymorphic SERPINA1 gene. The most common deficiency alleles are S and Z, but more than ... Read more >>

J. Clin. Lab. Anal. (Journal of clinical laboratory analysis)
[2020, :e23279]

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Activation of complement component 3 is associated with airways disease and pulmonary emphysema in alpha-1 antitrypsin deficiency.

Michael E O'Brien, Laura Fee, Niall Browne, Tomás P Carroll, Paula Meleady, Michael Henry, Karen McQuillan, Mark P Murphy, Mark Logan, Cormac McCarthy, Oliver J McElvaney, Emer P Reeves, Noel G McElvaney,

INTRODUCTION:Alpha-1 antitrypsin (AAT) deficiency (AATD) is associated with early onset emphysema. The aim of this study was to investigate whether AAT binding to plasma constituents could regulate their activation, and in AATD, exploit this binding event to better understand the condition and uncover novel biomarkers of therapeutic efficacy. METHODS:To isolate ... Read more >>

Thorax (Thorax)
[2020, 75(4):321-330]

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Comparison of the liquid and lyophilized formulations of Prolastin®-C for Alpha1-Antitrypsin deficiency: Biochemical characteristics, pharmacokinetics, safety and neoantigenicity in rabbits.

Vikram Arora, Maria Cruz, John Lang, Anthony M Klos, W Keither Merritt, Jeffrey Price, George Taylor, Pete Vandeberg, Kevin Wee, Todd Willis,

Multiple analytical and preclinical studies were performed to compare the biochemical characteristics, pharmacokinetics (PK), safety and neoantigenicity of a new 5% liquid formulation of Alpha-1 Proteinase Inhibitor (Liquid A1PI, Prolastin®-C Liquid) with the lyophilized version (Lyophilized A1PI, Prolastin®-C). Liquid A1PI and Lyophilized A1PI had similar average mass (~52 kDa), and ... Read more >>

Biologicals (Biologicals : journal of the International Association of Biological Standardization)
[2019, 62:77-84]

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Clinical manifestations in patients with PI*MMMalton genotypes. A matter still unsolved in alpha-1 antitrypsin deficiency.

Marina Aiello, Alberto Fantin, Chiara Longo, Ilaria Ferrarotti, Giuseppina Bertorelli, Alfredo Chetta,

We report the genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in 117 patients admitted to our outpatient clinic and characterized by a serum concentration of AAT lower than 113 mg/dL. We focused on the M-like heterozygous variant of the SERPINA1 gene called PI*MMMalton, and describe three patients with this variant. ... Read more >>

Respirol Case Rep (Respirology case reports)
[2020, 8(3):e00528]

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Assessment of liver phenotype in adults with severe alpha-1 antitrypsin deficiency (Pi*ZZ genotype).

Julia Kümpers, Malin Fromme, Carolin V Schneider, Christian Trautwein, Helmut Denk, Karim Hamesch, Pavel Strnad,

J. Hepatol. (Journal of hepatology)
[2019, 71(6):1272-1274]

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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.

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

The presence of the homozygous 'Pi*Z' variant of alpha-1 antitrypsin (AAT) ('Pi*ZZ' genotype) predisposes to liver fibrosis development, but the role of iron metabolism in this process remains unknown. Therefore, we assessed iron metabolism and variants in the Homeostatic Iron Regulator gene (HFE) as the major cause of hereditary iron ... Read more >>

Cells (Cells)
[2019, 8(11):]

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Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease.

Nozomu Takei, Masaru Suzuki, Hironi Makita, Satoshi Konno, Kaoruko Shimizu, Hiroki Kimura, Hirokazu Kimura, Masaharu Nishimura,

Purpose:Alpha-1 antitrypsin deficiency is associated with the development of chronic obstructive pulmonary disease (COPD), whereas increased levels of serum alpha-1antitrypsin occur in response to inflammation. The effects of alpha-1 antitrypsin levels on the clinical course of COPD had been unclear. We investigated the association of serum alpha-1 antitrypsin levels with ... Read more >>

Int J Chron Obstruct Pulmon Dis (International Journal of Chronic Obstructive Pulmonary Disease)
[2019, 14:2885-2893]

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Calcium signalling in mammalian cell lines expressing wild type and mutant human α1-Antitrypsin.

Nancy T Malintan, Steven D Buckingham, David A Lomas, David B Sattelle,

A possible role for calcium signalling in the autosomal dominant form of dementia, familial encephalopathy with neuroserpin inclusion bodies (FENIB), has been proposed, which may point towards a mechanism by which cells could sense and respond to the accumulation of mutant serpin polymers in the endoplasmic reticulum (ER). We therefore ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):17293]

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Comparative evaluation of serum alpha-1antitrypsin levels in patients with oral squamous cell carcinoma and in subjects with tobacco habit without carcinoma.

Upasana S Ahuja, Nidhi Puri, Anjana Bagewadi, Vaishali Keluskar, Anshuman Ahuja, Harkanwal P Singh,

Aim/Objectives:To evaluate serum levels of Alpha-1 antitrypsin in patients with oral squamous cell carcinoma and compare them with that of healthy subjects with and without tobacco habits. Materials and Method:The sample of 83 subjects was divided into three groups: 30 subjects with oral squamous cell carcinoma formed Group A. The ... Read more >>

J Family Med Prim Care (Journal of family medicine and primary care)
[2019, 8(11):3657-3663]

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Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency.

Timm Greulich, Alan Altraja, Miriam Barrecheguren, Robert Bals, Jan Chlumsky, Joanna Chorostowska-Wynimko, Christian Clarenbach, Luciano Corda, Angelo Guido Corsico, Ilaria Ferrarotti, Cristina Esquinas, Caroline Gouder, Ana Hećimović, Aleksandra Ilic, Yavor Ivanov, Sabina Janciauskiene, Wim Janssens, Malcolm Kohler, Alvils Krams, Beatriz Lara, Ravi Mahadeva, Gerry McElvaney, Jean-François Mornex, Karen O'Hara, David Parr, Eava Piitulainen, Karin Schmid-Scherzer, Niels Seersholm, Robert A Stockley, Jan Stolk, Maria Sucena, Hanan Tanash, Alice Turner, Ruxandra Ulmeanu, Marion Wilkens, Arzu Yorgancioğlu, Ana Zaharie, Marc Miravitlles,

Rationale and objectives:Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that leads to an increased risk of emphysema and liver disease. Despite extensive investigation, there remain unanswered questions concerning the natural history, pathophysiology, genetics and the prognosis of the lung disease in association with AATD. The European Alpha-1 Clinical Research ... Read more >>

ERJ Open Res (ERJ open research)
[2020, 6(1):]

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Targeting the site encoded by SERPINA1*E342K for treating alpha-1 antitrypsin deficiency-associated liver diseases.

Xiaojuan Zhang, Kien Pham, Danmeng Li, Ryan J Schutte, Mark Brantly, Chen Liu, David A Ostrov,

Alpha1-antitrypsin (AAT) deficiency predisposes individuals to emphysema and liver diseases such as cirrhosis and hepatocellular carcinoma. The deficiency results from mutations in the SERPIN1A gene encoding AAT molecules that cause hepatotoxic retention within the endoplasmic reticulum. Since the E342K mutation is the basis for destabilization leading to lung and liver ... Read more >>

FEBS Lett. (FEBS letters)
[2019, 593(14):1849-1862]

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DEFI-ALFA: The French key to the alpha1 mystery?

Malin Fromme, Martin Oliverius, Pavel Strnad,

Liver Int. (Liver international : official journal of the International Association for the Study of the Liver)
[2019, 39(6):1019-1021]

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

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

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). Pi*ZZ carriers may develop lung and liver diseases. Mutation-associated lung disorders have been well ... Read more >>

Gastroenterology (Gastroenterology)
[2019, 157(3):705-719.e18]

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A Novel Small Molecule Inhibits Intrahepatocellular Accumulation of Z-Variant Alpha 1-Antitrypsin In Vitro and In Vivo.

Xiaojuan Zhang, Kien Pham, Danmeng Li, Ryan J Schutte, David Hernandez Gonzalo, Penghui Zhang, Regina Oshins, Weihong Tan, Mark Brantly, Chen Liu, David A Ostrov,

Alpha 1-antitrypsin deficiency (AATD) is the most common genetic cause of liver disease in children and is associated with early-onset chronic liver disease in adults. AATD associated liver injury is caused by hepatotoxic retention of polymerized mutant alpha 1-antitrypsin molecules within the endoplasmic reticulum. Currently, there is no curative therapy ... Read more >>

Cells (Cells)
[2019, 8(12):]

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Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.

Jack Dummer, Claudia C Dobler, Mark Holmes, Daniel Chambers, Ian A Yang, Lianne Parkin, Sheree Smith, Peter Wark, Anouk Dev, Sandra Hodge, Eli Dabscheck, Julian Gooi, Sameh Samuel, Steven Knowles, Anne E Holland,

AATD is a common inherited disorder associated with an increased risk of developing pulmonary emphysema and liver disease. Many people with AATD-associated pulmonary emphysema remain undiagnosed and therefore without access to care and counselling specific to the disease. AAT augmentation therapy is available and consists of i.v. infusions of exogenous ... Read more >>

Respirology (Respirology (Carlton, Vic.))
[2020, 25(3):321-335]

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Mesenchymal stem/stromal cell secretome for lung regeneration: The long way through "pharmaceuticalization" for the best formulation.

Elia Bari, Ilaria Ferrarotti, Maria Luisa Torre, Angelo Guido Corsico, Sara Perteghella,

Pulmonary acute and chronic diseases, such as chronic obstructive pulmonary disease, pulmonary fibrosis and pulmonary hypertension, are considered to be major health issues worldwide. Cellular therapies with Mesenchymal Stem Cells (MSCs) offer a new therapeutic approach for chronic and acute lung diseases related to their anti-inflammatory, immunomodulatory, regenerative, pro-angiogenic and ... Read more >>

J Control Release (Journal of controlled release : official journal of the Controlled Release Society)
[2019, 309:11-24]

Cited: 2 times

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Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.

Gema Gómez-Mariano, Nerea Matamala, Selene Martínez, Iago Justo, Alberto Marcacuzco, Carlos Jimenez, Sara Monzón, Isabel Cuesta, Cristina Garfia, María Teresa Martínez, Meritxell Huch, Ignacio Pérez de Castro, Manuel Posada, Sabina Janciauskiene, Beatriz Martínez-Delgado,

BACKGROUND AND AIMS:Alpha-1 antitrypsin (AAT) is a product of SERPINA1 gene mainly expressed by hepatocytes. Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high propensity to polymerize, accumulate in hepatocytes and thus to enhance a risk for hepatocyte ... Read more >>

Hepatol Int (Hepatology international)
[2020, 14(1):127-137]

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Bacterial load and inflammatory response in sputum of alpha-1 antitrypsin deficiency patients with COPD.

Bruno Balbi, Claudia Sangiorgi, Isabella Gnemmi, Ilaria Ferrarotti, Davide Vallese, Elena Paracchini, Lorena Delle Donne, Luciano Corda, Paolo Baderna, Angelo Corsico, Mauro Carone, Paola Brun, Francesco Cappello, Fabio Lm Ricciardolo, Paolo Ruggeri, Sharon Mumby, Ian M Adcock, Gaetano Caramori, Antonino Di Stefano,

Background:Airway inflammation may drive the progression of chronic obstructive pulmonary disease (COPD) associated with alpha-1 antitrypsin deficiency (AATD), but the relationship between airway microbiota and inflammation has not been investigated. Methods:We studied 21 non-treated AATD (AATD-noT) patients, 20 AATD-COPD patients under augmentation therapy (AATD-AT), 20 cigarette smoke-associated COPD patients, 20 ... Read more >>

Int J Chron Obstruct Pulmon Dis (International Journal of Chronic Obstructive Pulmonary Disease)
[2019, 14:1879-1893]

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Regulation of reticulophagy by the N-degron pathway.

Chang Hoon Ji, Hee Yeon Kim, Ah Jung Heo, Min Ju Lee, Daniel Youngjae Park, Dong Hyun Kim, Bo Yeon Kim, Yong Tae Kwon,

Cellular homeostasis requires selective autophagic degradation of damaged or defective organelles, including the endoplasmic reticulum (ER). Previous studies have shown that specific ER transmembrane receptors recruit LC3 on autophagic membranes by using LC3-interacting domains. In this study, we showed that the N-degron pathway mediates ubiquitin (Ub)-dependent reticulophagy. During this 2-step ... Read more >>

Autophagy (Autophagy)
[2020, 16(2):373-375]

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Blood monocyte profiles in COPD patients with PiMM and PiZZ α1-antitrypsin.

J Stolk, N Aggarwal, I Hochnadel, S Wrenger, B Martinez-Delgado, T Welte, T Yevsa, S Janciauskiene,

Human blood monocytes are divided into populations based on the differential expression of CD14 and CD16 receptors: CD14 + CD16(classical), CD14 + CD16 + (intermediate), and CD14-CD16+ (non-classical). Given their functional differences and their role in pathogenesis of chronic obstructive pulmonary disease (COPD), monocyte profiling is of clinical interest. Here we investigated blood monocyte subsets in ... Read more >>

Respir Med (Respiratory medicine)
[2019, 148:60-62]

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Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.

Mathias Ruiz, Florence Lacaille, Julien Berthiller, Philippe Joly, Jérôme Dumortier, Madeleine Aumar, Laure Bridoux-Henno, Emmanuel Jacquemin, Thierry Lamireau, Pierre Broué, Christine Rivet, Abdelouahed Belmalih, Lioara Restier, Colette Chapuis-Cellier, Marion Bouchecareilh, Alain Lachaux, ,

BACKGROUND & AIMS:To identify prognostic factors for liver disease in children with alpha-1 antitrypsin deficiency, irrespective of phenotype, using the DEFI-ALPHA cohort. METHODS:Retrospective, then prospective from 2010, multicentre study including children known to have alpha-1 antitrypsin blood concentration below 0.8 g/L, born in France since 1989. Clinical and biological data were ... Read more >>

Liver Int. (Liver international : official journal of the International Association for the Study of the Liver)
[2019, 39(6):1136-1146]

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Alpha-1 Antitrypsin-A Target for MicroRNA-Based Therapeutic Development for Cystic Fibrosis.

Alison M D Hunt, Arlene M A Glasgow, Hilary Humphreys, Catherine M Greene,

Cystic fibrosis (CF) is an autosomal recessive genetic disorder arising from mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Disruption to normal ion homeostasis in the airway results in impaired mucociliary clearance, leaving the lung more vulnerable to recurrent and chronic bacterial infections. The CF lung endures an ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-antitrypsin Protein in NSCLC.

Evrim Ercetin, Sarah Richtmann, Beatriz Martinez Delgado, Gema Gomez-Mariano, Sabine Wrenger, Elena Korenbaum, Bin Liu, David DeLuca, Mark P Kühnel, Danny Jonigk, Kadriya Yuskaeva, Arne Warth, Thomas Muley, Hauke Winter, Michael Meister, Tobias Welte, Sabina Janciauskiene, Marc A Schneider,

Abstract: High expression of SERPINA1 gene encoding acute phase protein, alpha1-antitrypsin (AAT), is associated with various tumors. We sought to examine the significance of SERPINA1 and AAT protein in non-small-cell lung cancer (NSCLC) patients and NSCLC cell lines. Tumor and adjacent non-tumor lung tissues and serum samples from 351 NSCLC ... Read more >>

Cancers (Basel) (Cancers)
[2019, 11(9):]

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Alpha1-Antitrypsin Deficiency: Transition of Care for the Child With AAT Deficiency into Adulthood.

Henry C Lin, Nagraj Kasi, J Antonio Quiros,

IMPORTANCE:Alpha1-antitrypsin (AAT) deficiency is a common, but an underdiagnosed genetic condition, affecting 1 in 1500 individuals. It can present insidiously with liver disease in children. Although clinical practice guidelines exist for the management of AAT deficiency, especially with regards to pulmonary involvement, there are no published recommendations that specifically relate ... Read more >>

Curr Pediatr Rev (Current pediatric reviews)
[2019, 15(1):53-61]

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Safety and pharmacokinetics of Alpha-1 MP (Prolastin®-C) in Japanese patients with alpha1-antitrypsin (AAT) deficiency.

Kuniaki Seyama, Toshihiro Nukiwa, Tadashi Sato, Masaru Suzuki, Satoshi Konno, Kazuhisa Takahashi, Masaharu Nishimura, Kimberly Steinmann, Susan Sorrells, Junliang Chen, Ken-Ichi Hayashi,

BACKGROUND:Alpha1-Proteinase Inhibitor, Modified Process (Alpha-1 MP) is used for augmentation therapy in alpha1-antitrypsin deficiency (AATD), an extremely rare disease in Japan. Weekly doses of 60 mg/kg Alpha-1 MP have been shown to be safe and well tolerated in non-Japanese subjects, but the safety and pharmacokinetics (PK) have not been evaluated in ... Read more >>

Respir Investig (Respiratory investigation)
[2019, 57(1):89-96]

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