Antitrypsin Deficiency

Common Name(s)

Antitrypsin Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antitrypsin Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Antitrypsin Deficiency" returned 359 free, full-text research articles on human participants. First 3 results:

Challenge of α1-antitrypsin deficiency diagnosis in primary care.
 

Author(s): Qian Ye, Anthony D D'Urzo

Journal: Can Fam Physician. 2016 11;62(11):899-901.

 

Last Updated: 31 Dec 1969

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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
 

Author(s): Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

Journal:

 

The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence ...

Last Updated: 31 Dec 1969

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Does urinary peptide content differ between COPD patients with and without inherited alpha-1 antitrypsin deficiency?
 

Author(s): Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene

Journal:

 

Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Antitrypsin Deficiency" returned 61 free, full-text review articles on human participants. First 3 results:

Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.
 

Author(s): Maria J Chiuchiolo, Ronald G Crystal

Journal: Ann Am Thorac Soc. 2016 Aug;13 Suppl 4():S352-69.

 

Alpha-1 antitrypsin (AAT) deficiency, characterized by low plasma levels of the serine protease inhibitor AAT, is associated with emphysema secondary to insufficient protection of the lung from neutrophil proteases. Although AAT augmentation therapy with purified AAT protein is efficacious, ...

Last Updated: 31 Dec 1969

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Challenges and Prospects for Alpha-1 Antitrypsin Deficiency Gene Therapy.
 

Author(s): Joanna Wozniak, Tomasz Wandtke, Piotr Kopinski, Joanna Chorostowska-Wynimko

Journal: Hum. Gene Ther.. 2015 Nov;26(11):709-18.

 

Alpha-1 antitrypsin (AAT) is a protease inhibitor belonging to the serpin family. A number of identified mutations in the SERPINA1 gene encoding this protein result in alpha-1 antitrypsin deficiency (AATD). A decrease in AAT serum concentration or reduced biological activity causes ...

Last Updated: 31 Dec 1969

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Progress with Recombinant Adeno-Associated Virus Vectors for Gene Therapy of Alpha-1 Antitrypsin Deficiency.
 

Author(s): Alisha M Gruntman, Terence R Flotte

Journal: Hum Gene Ther Methods. 2015 Jun;26(3):77-81.

 

The pathway to a clinical gene therapy product often involves many changes of course and strategy before obtaining successful results. Here we outline the methodologies, both clinical and preclinical, that went into developing a gene therapy approach to the treatment of alpha-1 antitrypsin ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 31 Jan 2017

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Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 20 Sep 2016

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Last Updated: 20 Dec 2017

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