Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Fra, Anna M ^a   Gooptu, Bibek ^b   Ferrarotti, Ilaria ^c   Miranda, Elena ^d   Scabini, Roberta ^c   Ronzoni, Riccardo ^a   Benini, Federica ^e,g   Corda, Luciano ^e   Medicina, Daniela ^f   Luisetti, Maurizio ^c   Schiaffonati, Luisa ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF LONDON   (United Kingdom)

^c UNIVERSITY OF PAVIA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e Division of Internal Medicine   (Italy)

^f Desenzano Hospital ^*  (Italy)

^g Desenzano Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEIN VARIANT;

AAT GENE; ADULT; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONFORMATIONAL TRANSITION; CONTROLLED STUDY; DOWN REGULATION; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LUNG EMPHYSEMA; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PROTEIN BLOOD LEVEL; PROTEIN CONFORMATION; PROTEIN EXPRESSION; PROTEIN POLYMERIZATION; PROTEIN SECRETION; STRUCTURE ACTIVITY RELATION; STRUCTURE ANALYSIS;

ADULT; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; AMINO ACID SEQUENCE; ANIMALS; CELL LINE, TUMOR; CERCOPITHECUS AETHIOPS; COS CELLS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN CONFORMATION; PROTEIN ISOFORMS; PROTEIN MULTIMERIZATION; SEQUENCE ALIGNMENT;

EID: 84862497075     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038405     Document Type: Article

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