Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D.

doi:10.1161/01.RES.0000069020.87627.7D

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Article

Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D.

Circulation research - 2 May 2003

Naito Masao, Mimuro Jun, Endo Hitoshi, Madoiwa Seiji, Ogata Kyo-ichi, Kikuchi Jiro, Sugo Teruko, Yasu Takanori, Kariya Yusei, Hoshino Yuichi, Sakata Yoichi

Abstract excerpt

Three thrombophilic patients with protein C (PC) deficiency were found to have independent mutations in the PC gene. These mutations resulted in single amino acid substitutions of R169W, R352W, and G376D in the affected PC molecules. These abnormal PC molecules were expressed in CHO-K1 cells in the presence or absence of vitamin K, and their synthesis, posttranslational modification, and secretion were studied....

Topics

Animals
Antibodies, Monoclonal
Biological Transport
Blotting, Western
CHO Cells
Cricetinae
Culture Media, Conditioned
Glycosylation
Golgi Apparatus
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microscopy, Confocal

Mutation

Mutation, Missense

Plasmids

Protein C

Recombinant Proteins

Secretory Vesicles

Thrombophilia

Source

Open in PubMed

Identifiers

PMID: 12663483
DOI: 10.1161/01.RES.0000069020.87627.7D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-12663483-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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