Intracellular Transport-Deficient Mutants Causing Hereditary Deficiencies of Factors Involved in Coagulation and Fibrinolysis

• References

• 1 Aoki N, Harpel PC. Inhibitors of the fibrinolytic enzyme system. Semin Thromb Hemostas 1984; 10: 24-41
• 2 Aoki N. Fibrinolysis. Its initiation and regulation. J Prot Chem 1986; 5: 269-277
• 3 Miura O, Sugahara Y, Aoki N. Hereditary α₂-plasmin inhibitor deficiency caused by a transport-deficient mutation (α₂-PI-Okinawa). Deletion of Glu¹³⁷ by a trinucleotide deletion blocks intracellular transport. J Biol Chem 1989; 264 (30) 18213-18219
• 4 Miura O, Hirosawa S, Kato A, Aoki N. Molecular basis for congenital deficiency of α₂-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence. J Clin Invest 1989; 83 (05) 1598-1604
• 5 Miura O, Aoki N. Impaired secretion of mutant α₂-plasmin inhibitor (α₂ PI-Nara) from COS-7 and HepG2 cells: molecular and cellular basis for hereditary deficiency of α₂-plasmin inhibitor. Blood 1990; 75 (05) 1092-1096
• 6 Kornfeld R, Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 1985; 54: 631-664
• 7 Sugahara Y, Miura O, Yuen P, Aoki N. Protein C deficiency Hong Kong 1 and 2: Hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation. Blood 1992; 80: 126-133
• 8 Brantly M, Nukiwa T, Crystal RG. Molecular basis of α₁-antitrypsin deficiency. Am J Med 1988; 84 (06) A 13-31
• 9 Lodish HF. Transport of secretory and membrane glycoprotein from the rough endoplasmic reticulum to the Golgi. A rate-limiting step in protein maturation and secretion. J Biol Chem 1988; 263: 2107-2110
• 10 Pfeffer SR, Rothman JE. Biosynthetic protein transport and sorting by the endoplasmic reticulum and Golgi. Annu Rev Biochem 1987; 56: 829-852