Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants.

doi:10.1074/jbc.270.15.8393

Back to search

Article

Mutations which impede loop/sheet polymerization enhance the secretion of human alpha 1-antitrypsin deficiency variants.

The Journal of biological chemistry - 14 Apr 1995

Sidhar S K, Lomas D A, Carrell R W, Foreman R C

Abstract excerpt

alpha 1-Antitrypsin plasma deficiency variants which form hepatic inclusion bodies within the endoplasmic pathway include the common Z variant (Glu342-->Lys) and the rarer alpha 1-antitrypsin Siiyama (Ser53-->Phe). It has been proposed that retention of both abnormal proteins is accompanied by a...

Topics

Animals
Biological Transport
Biopolymers
Humans
Leucine
Mutation
Oocytes
Phenylalanine
Protein Processing, Post-Translational
Xenopus laevis
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.