Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation

Article ID	Journal	Published Year	Pages	File Type
3027759	Thrombosis Research	2010	6 Pages	PDF

Abstract

These results show that most 346Â N-FXII is degraded intracellularly through endoplasmic reticulum-associated degradation as the protein quality control system, resulting in an insufficient secretion phenotype.

Keywords

FXI PCN APTT ERAD mRNA PVDF GRP Trp FXIIa ASRA HRP CRM FXII FBS GLN SDS factor XII deficiency DMEM ASN Cys PBS polyvinylidene difluoride membranes LEU cDNA DNA Dulbecco's modified Eagle Medium Arginine Arg deoxyribonucleic acid complementary deoxyribonucleic acid ribonucleic acid RNA Blood coagulation Cho SER Chinese Hamster Ovary endoplasmic reticulum-associated degradation Tryptophan Tyr Tyrosine mutation messenger ribonucleic acid reverse transcription activated partial thromboplastin time sodium dodecyl sulfate fetal bovine serum Serine Cysteine endoplasmic reticulum Phosphate buffered saline Leucine Lysine LYS Methionine Expression study MET cross-reacting material PRO polymerase chain reaction PCR Horseradish peroxidase Proteasome glucose-regulated protein Proline glutamine Gly Glycine

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Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation

Authors

Keijiro Suzuki, Kazunori Murai, Akira Suwabe, Yoji Ishida,