Deficiency mutations of alpha-1 antitrypsin: Effects on folding, function, and polymerization

American Journal of Respiratory Cell and Molecular Biology

Volumn 54, Issue 1, 2016, Pages 71-80

  Haq, Imran ^a,b   Irving, James A ^a,b   Saleh, Aarash D ^c   Dron, Louis ^c   Regan Mochrie, Gemma L ^a   Motamedi Shad, Neda ^a,b   Hurst, John R ^c   Gooptu, Bibek ^b,c,d   Lomas, David A ^a,b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LONDON   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Alpha 1 antitrypsin deficiency; Mutation; Polymerization; Serpinopathies; Unfolding

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROLINE; PROTEIN BAGHDAD; PROTEIN VARIANT; UNCLASSIFIED DRUG; SERPINA1 PROTEIN, HUMAN;

ARTICLE; BETA SHEET; CONTROLLED STUDY; GENE MUTATION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYDROGEN BOND; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERIZATION; PROTEIN UNFOLDING; PROTEINASE INHIBITION; WESTERN BLOTTING; ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; CASE REPORT; CHEMISTRY; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; KINETICS; METABOLISM; MOLECULAR MODEL; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN DENATURATION; PROTEIN FOLDING; PROTEIN MULTIMERIZATION;

ADULT; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; KINETICS; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN DENATURATION; PROTEIN FOLDING; PROTEIN MULTIMERIZATION;

EID: 84963865259     PISSN: 10441549     EISSN: 15354989     Source Type: Journal    
DOI: 10.1165/rcmb.2015-0154OC     Document Type: Article

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