Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity

Human Molecular Genetics

Volumn 27, Issue 10, 2018, Pages 1785-1793

  Laffranchi, Mattia ^a   Berardelli, Romina ^a   Ronzoni, Riccardo ^a,b   Lomas, David A ^b   Fra, Annamaria ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEIN AGGREGATE;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CELL INCLUSION; CELL LYSATE; COMPARATIVE STUDY; CONFOCAL MICROSCOPY; CONFORMATIONAL TRANSITION; COS-7 CELL LINE; DISEASE ASSOCIATION; ENDOPLASMIC RETICULUM; ENZYME LINKED IMMUNOSORBENT ASSAY; EXPRESSION VECTOR; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEK293T CELL LINE; HELA CELL LINE; HEPA 1-6 CELL LINE; HETEROPOLYMERIZATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER CELL; MOLECULAR INTERACTION; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERIZATION; PRIORITY JOURNAL; RISK FACTOR; SITE DIRECTED MUTAGENESIS; ALLELE; BLOOD; CHEMISTRY; COMPLICATION; EMPHYSEMA; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; HEK293 CELL LINE; HETEROZYGOTE; LIVER; LIVER CIRRHOSIS; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; EMPHYSEMA; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; GENOTYPE; HEK293 CELLS; HEPATOCYTES; HETEROZYGOTE; HUMANS; LIVER; LIVER CIRRHOSIS; PROTEIN AGGREGATES; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION;

EID: 85047006527     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddy090     Document Type: Article

References (34)

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