Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and non-bleeding disorders Running head: GGCX functional study using a cell-based assay
نویسندگان
چکیده
Running head: GGCX functional study using a cell-based assay Jian-Ke Tie, Jorge D. A. Carneiro, Da-Yun Jin, Ciro D. Martinhago, Cees Vermeer, and Darrel W. Stafford Department of Biology, University of North Carolina at Chapel Hill, North Carolina, USA. Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, SP, Brazil. Chromosome Genomic Medicine, São Paulo, SP, Brazil. R&D Group VitaK, Maastricht University, Maastricht, The Netherlands. These authors contribute equally to this work.
منابع مشابه
Liver-Specific γ-Glutamyl Carboxylase-Deficient Mice Display Bleeding Diathesis and Short Life Span
Vitamin K is a fat-soluble vitamin that plays important roles in blood coagulation and bone metabolism. One of its functions is as a co-factor for γ-glutamyl carboxylase (Ggcx). Conventional knockout of Ggcx causes death shortly after birth in homozygous mice. We created Ggcx-floxed mice by inserting loxP sequences at the sites flanking exon 6 of Ggcx. By mating these mice with albumin-Cre mice...
متن کاملFamilial deficiency of vitamin K-dependent clotting factors.
Combined deficiency of vitamin K-dependent clotting factors II, VII, IX and X (and proteins C, S, and Z) is usually an acquired clinical problem, often resulting from liver disease, malabsorption, or warfarin overdose. A rare inherited form of defective gamma-carboxylation resulting in early onset of bleeding was first described by McMillan and Roberts in 1966 and subsequently has been termed '...
متن کاملImproved Expression of Recombinant Human Factor IX by Co-expression of GGCX, VKOR and Furin
Recombinant human FIX concentrates (rhFIX) are essential in the treatment and prevention of bleeding in the bleeding disorder haemophilia B. However, due to the complex nature of FIX production yields are low which leads to high treatment costs. Here we report the production of rhFIX with substantially higher yield by co-expressing human FIX with GGCX (γ-glutamyl carboxylase), VKOR (vitamin K e...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K–dependent coagulation factor deficiency
Hereditary combined vitamin K–dependent (VKD) coagulation factor deficiency is an autosomal recessive bleeding disorder associated with defects in either the -carboxylase, which carboxylates VKD proteins to render them active, or the vitamin K epoxide reductase (VKORC1), which supplies the reduced vitamin K cofactor required for carboxylation. Such deficiencies are rare, and we report the fourt...
متن کاملCompound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency.
Hereditary combined vitamin K-dependent (VKD) coagulation factor deficiency is an autosomal recessive bleeding disorder associated with defects in either the gamma-carboxylase, which carboxylates VKD proteins to render them active, or the vitamin K epoxide reductase (VKORC1), which supplies the reduced vitamin K cofactor required for carboxylation. Such deficiencies are rare, and we report the ...
متن کامل