Literature DB >> 1084290

Amino acid substitution Glu leads to Lys alpha1-antitrypsin PiZ.

J O Jeppsson.   

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Year:  1976        PMID： 1084290     DOI： 10.1016/0014-5793(76)80478-4

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


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  30 in total

1.  De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.

Authors:  A L Schwarzman; A Kowalska; J Rujner; M S Vlasov; V S Gaitskhoki
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

Review 2.  Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema.

Authors:  R Mahadeva; D A Lomas
Journal:  Thorax       Date:  1998-06       Impact factor: 9.139

3.  Selective presence of ubiquitin in intracellular inclusions.

Authors:  V Manetto; F W Abdul-Karim; G Perry; M Tabaton; L Autilio-Gambetti; P Gambetti
Journal:  Am J Pathol       Date:  1989-03       Impact factor: 4.307

4.  Molecular basis for defective secretion of the Z variant of human alpha-1-proteinase inhibitor: secretion of variants having altered potential for salt bridge formation between amino acids 290 and 342.

Authors:  A A McCracken; K B Kruse; J L Brown
Journal:  Mol Cell Biol       Date:  1989-04       Impact factor: 4.272

5.  The cellular defect in alpha 1-proteinase inhibitor (alpha 1-PI) deficiency is expressed in human monocytes and in Xenopus oocytes injected with human liver mRNA.

Authors:  D H Perlmutter; R M Kay; F S Cole; T H Rossing; D Van Thiel; H R Colten
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

6.  Molecular abnormality of PI S variant of human alpha1-antitrypsin.

Authors:  A Yoshida; C Ewing; M Wessels; J Lieberman; L Gaidulis
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

7.  Cloning and sequence of cDNA coding for alpha 1-antitrypsin.

Authors:  K Kurachi; T Chandra; S J Degen; T T White; T L Marchioro; S L Woo; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1981-11       Impact factor: 11.205

8.  Synthesis of stress proteins is increased in individuals with homozygous PiZZ alpha 1-antitrypsin deficiency and liver disease.

Authors:  D H Perlmutter; M J Schlesinger; J A Pierce; P I Punsal; A L Schwartz
Journal:  J Clin Invest       Date:  1989-11       Impact factor: 14.808

9.  An alpha 1-antitrypsin variant, Pi B Alhambra (Lys to Asp, Glu to Asp), with rapid anodal electrophoretic mobility.

Authors:  A Yoshida; R Chillar; J C Taylor
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

Review 10.  Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.

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