[HTML][HTML] Mutations which impede loop/sheet polymerization enhance the secretion of human α1-antitrypsin deficiency variants
SK Sidhar, DA Lomas, RW Carrell… - Journal of Biological …, 1995 - ASBMB
α 1-Antitrypsin plasma deficiency variants which form hepatic inclusion bodies within the
endoplasmic pathway include the common Z variant (Glu 342→ Lys) and the rarer α 1-
antitrypsin S iiyama (Ser 53→ Phe). It has been proposed that retention of both abnormal
proteins is accompanied by a common mechanism of loop-sheet polymerization with the
insertion of the reactive center loop of one molecule into a β-pleated sheet of another. We
have compared the biosynthesis, glycosylation, and secretion of normal, Z and S iiyama …
endoplasmic pathway include the common Z variant (Glu 342→ Lys) and the rarer α 1-
antitrypsin S iiyama (Ser 53→ Phe). It has been proposed that retention of both abnormal
proteins is accompanied by a common mechanism of loop-sheet polymerization with the
insertion of the reactive center loop of one molecule into a β-pleated sheet of another. We
have compared the biosynthesis, glycosylation, and secretion of normal, Z and S iiyama …