Title : Molecular mechanism of type I congenital heparin cofactor (HC) II deficiency caused by a missense mutation at reactive P2 site: HC II Tokushima.

Pub. Date : 2001 Jan

PMID : 11204559






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 To investigate the molecular pathogenesis of our patient, we performed sequencing analysis and expressed recombinant human wild-type and mutant HC II molecules in COS-1 and CHO-K1 cells. carbonyl sulfide serpin family D member 1 Homo sapiens
2 Transient transfection, metabolic labeling and pulse-chase experiments followed by immunoprecipitation analysis showed that the recombinant mutant HC II molecules were secreted from COS-1 cells in reduced amounts compared with the wild-type, and that an enhanced intracellular association of the mutant molecules with a chaperone, GRP78/BiP, was observed in CHO-K1 cells. carbonyl sulfide serpin family D member 1 Homo sapiens
3 Immunohistochemical staining of the transfected cells revealed that COS-1 cells expressing the mutant HC II molecules were stained mainly in the perinuclear area. carbonyl sulfide serpin family D member 1 Homo sapiens