Literature DB >> 15170041

Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology.

D A Lomas1, H Parfrey.   

Abstract

The molecular basis of alpha(1)-antitrypsin deficiency is reviewed and is shown to be due to the accumulation of mutant protein as ordered polymers within the endoplasmic reticulum of hepatocytes. The current goals are to determine the cellular response to polymeric alpha(1)-antitrypsin and to develop therapeutic strategies to block polymerisation in vivo.

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Year:  2004        PMID： 15170041      PMCID： PMC1747018          DOI： 10.1136/thx.2003.006528

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


  137 in total

1.  Inhibitory conformation of the reactive loop of alpha 1-antitrypsin.

Authors:  P R Elliott; D A Lomas; R W Carrell; J P Abrahams
Journal:  Nat Struct Biol       Date:  1996-08

2.  Probing serpin reactive-loop conformations by proteolytic cleavage.

Authors:  W S Chang; M R Wardell; D A Lomas; R W Carrell
Journal:  Biochem J       Date:  1996-03-01       Impact factor: 3.857

3.  The Z type variation of human alpha 1-antitrypsin causes a protein folding defect.

Authors:  M H Yu; K N Lee; J Kim
Journal:  Nat Struct Biol       Date:  1995-05

4.  Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency.

Authors:  J A Burrows; L K Willis; D H Perlmutter
Journal:  Proc Natl Acad Sci U S A       Date:  2000-02-15       Impact factor: 11.205

5.  C-antineutrophil cytoplasmic antibody positivity in vasculitis patients is associated with the Z allele of alpha-1-antitrypsin, and P-antineutrophil cytoplasmic antibody positivity with the S allele.

Authors:  M E Griffith; J U Lovegrove; G Gaskin; D B Whitehouse; C D Pusey
Journal:  Nephrol Dial Transplant       Date:  1996-03       Impact factor: 5.992

6.  The endoplasmic reticulum degradation pathway for mutant secretory proteins alpha1-antitrypsin Z and S is distinct from that for an unassembled membrane protein.

Authors:  J H Teckman; D H Perlmutter
Journal:  J Biol Chem       Date:  1996-05-31       Impact factor: 5.157

7.  Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan.

Authors:  K Seyama; T Nukiwa; S Souma; K Shimizu; S Kira
Journal:  Am J Respir Crit Care Med       Date:  1995-12       Impact factor: 21.405

8.  The inhibition mechanism of serpins. Evidence that the mobile reactive center loop is cleaved in the native protease-inhibitor complex.

Authors:  M Wilczynska; M Fa; P I Ohlsson; T Ny
Journal:  J Biol Chem       Date:  1995-12-15       Impact factor: 5.157

9.  Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity.

Authors:  D Qu; J H Teckman; S Omura; D H Perlmutter
Journal:  J Biol Chem       Date:  1996-09-13       Impact factor: 5.157

10.  Alpha 1-antitrypsin deficiency: evaluation of bronchiectasis with CT.

Authors:  M A King; J A Stone; P T Diaz; C F Mueller; W J Becker; J E Gadek
Journal:  Radiology       Date:  1996-04       Impact factor: 11.105
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  29 in total

1.  Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry.

Authors:  Yuhong Chen; Melissa R Snyder; Yi Zhu; Linda J Tostrud; Linda M Benson; Jerry A Katzmann; H Robert Bergen
Journal:  Clin Chem       Date:  2011-06-02       Impact factor: 8.327

2.  Molecular multitasking in the airspace: alpha1-antitrypsin takes on thrombin and plasmin.

Authors:  Rubin M Tuder; Irina Petrache
Journal:  Am J Respir Cell Mol Biol       Date:  2007-05-31       Impact factor: 6.914

3.  Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population.

Authors:  Joshua A Bornhorst; Fernanda R O Calderon; Melinda Procter; Wei Tang; Edward R Ashwood; Rong Mao
Journal:  J Clin Pathol       Date:  2007-10       Impact factor: 3.411

4.  α₁-Antitrypsin protease inhibitor MZ heterozygosity is associated with airflow obstruction in two large cohorts.

Authors:  Inga-Cecilie Sørheim; Per Bakke; Amund Gulsvik; Sreekumar G Pillai; Ane Johannessen; Per I Gaarder; Edward J Campbell; Alvar Agustí; Peter M A Calverley; Claudio F Donner; Barry J Make; Stephen I Rennard; Jørgen Vestbo; Emiel F M Wouters; Peter D Paré; Robert D Levy; Harvey O Coxson; David A Lomas; Craig P Hersh; Edwin K Silverman
Journal:  Chest       Date:  2010-07-01       Impact factor: 9.410

5.  Expression of human alpha1-antitrypsin in mice and dogs following AAV6 vector-mediated gene transfer to the lungs.

Authors:  Christine L Halbert; David K Madtes; Andrew E Vaughan; Zejing Wang; Rainer Storb; Stephen J Tapscott; A Dusty Miller
Journal:  Mol Ther       Date:  2010-04-06       Impact factor: 11.454

6.  ABCA4 disease progression and a proposed strategy for gene therapy.

Authors:  Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Yaroslav Tsybovsky; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Alexander Sumaroka; Janet D Steinberg; Samuel G Jacobson; Edwin M Stone; Krzysztof Palczewski
Journal:  Hum Mol Genet       Date:  2008-12-12       Impact factor: 6.150

Review 7.  National Emphysema Treatment Trial state of the art: genetics of emphysema.

Authors:  Craig P Hersh; Dawn L DeMeo; Edwin K Silverman
Journal:  Proc Am Thorac Soc       Date:  2008-05-01

Review 8.  Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.

Authors:  Maria J Chiuchiolo; Ronald G Crystal
Journal:  Ann Am Thorac Soc       Date:  2016-08

9.  Alpha-1 antitrypsin, a diagnostic and prognostic marker of vernal keratoconjunctivitis.

Authors:  Akif Ahsan; Khushtar A Salman; Sana Alam; Anwar H Siddiqui; Syed Shariq Naeem; Aquil Ahmad; Iqbal M Khan
Journal:  J Clin Diagn Res       Date:  2014-05-15

10.  Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report.

Authors:  Sabri Denden; Michele Zorzetto; Fethi Amri; Jalel Knani; Stefania Ottaviani; Roberta Scabini; Marina Gorrini; Ilaria Ferrarotti; Ilaria Campo; Jemni Ben Chibani; Amel Haj Khelil; Maurizio Luisetti
Journal:  Orphanet J Rare Dis       Date:  2009-04-15       Impact factor: 4.123
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