Heparin cofactor II–thrombin complex: A biomarker of MPS disease

E.F. Neufeld, J. Muenzer, The mucopolysaccharidoses, in: C.R. Scriver et al. (Eds.), Online Metabolic and Molecular Bases of Inherited Disease, 2007 (Chapter 136). Nelson, 1997, Incidence of the mucopolysaccharidoses in Northern Ireland, Hum. Genet., 101, 355, 10.1007/s004390050641 Nelson, 2003, Incidence of the mucopolysaccharidoses in Western Australia, Am. J. Med. Genet., 123, 310, 10.1002/ajmg.a.20314 Lowry, 1990, An update on the frequency of mucopolysaccharide syndromes in British Columbia, Hum. Genet., 85, 389, 10.1007/BF00206770 Clarke, 2008, The mucopolysaccharidoses: a success of molecular medicine, Expert Rev. Mol. Med., 10, 10.1017/S1462399408000550 Terlato, 2003, Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature, Genet. Med., 5, 286, 10.1097/01.GIM.0000078027.83236.49 Froissart, 2002, Mucopolysaccharidosis type II—genotype/phenotype aspects, Acta Paediatr. Suppl., 91, 82, 10.1111/j.1651-2227.2002.tb03116.x Litjens, 1996, Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients, Am. J. Hum. Genet., 58, 1127 Fuller, 2005, Prediction of neuropathology in mucopolysaccharidosis I patients, Mol. Genet. Metab., 84, 18, 10.1016/j.ymgme.2004.09.004 Wraith, 2004, Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-l-iduronidase (Laronidase), J. Pediatr., 144, 581, 10.1016/j.jpeds.2004.01.046 Muenzer, 2006, A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome), Genet. Med., 8, 465, 10.1097/01.gim.0000232477.37660.fb Harmatz, 2006, MPS VI Phase 3 Study Group, enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blinded, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or RHASB) and follow-on, open-label extension study, J. Pediatr., 148, 533, 10.1016/j.jpeds.2005.12.014 Vellodi, 1999, Long-term follow-up following bone marrow transplantation for Hunter disease, J. Inherit. Metab. Dis., 22, 638, 10.1023/A:1005525931994 Sivakumur, 1999, Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling, J. Inherit. Metab. Dis., 22, 849, 10.1023/A:1005526628598 Peters, 1998, Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group, Blood, 91, 2601, 10.1182/blood.V91.7.2601 Byers, 1998, Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS, Mol. Genet. Metab., 65, 282, 10.1006/mgme.1998.2761 Gallegos-Arreola, 2000, Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses, Arch. Med. Res., 31, 505, 10.1016/S0188-4409(00)00104-1 Mabe, 2004, Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and berry spot tests, Clin. Chim. Acta, 345, 135, 10.1016/j.cccn.2004.03.015 Randall, 2006, Heparin cofactor II thrombin complex in MPS I: a biomarker of MPS disease, Mol. Genet. Metab., 88, 235, 10.1016/j.ymgme.2006.01.005 Huntington, 2003, Mechanisms of glycosaminoglycan activation of the serpins in hemostasis, J. Thromb. Haemost., 1, 1535, 10.1046/j.1538-7836.2003.00305.x Tollefsen, 1983, Activation of heparin cofactor II by dermatan sulphate, J. Biol. Chem., 258, 6713, 10.1016/S0021-9258(18)32276-2 Pike, 2005, Control of the coagulation system by serpins. Getting by with a little help from glycosaminoglycans, FEBS J., 272, 4842, 10.1111/j.1742-4658.2005.04880.x Kounnas, 1996, Cellular internalization and degradation of antithrombin III-thrombin, heparin cofactor II–thrombin, and -antitrypsin–trypsin complexes is mediated by the low density lipoprotein receptor-related protein, J. Biol. Chem., 271, 6523, 10.1074/jbc.271.11.6523 Hochuli, 2003, Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidoses, NMR Biomed., 16, 224, 10.1002/nbm.833 Scully, 1988, Effect of oversulphated chondroitin and dermatan sulphate upon thrombin and factor Xa inactivation by antithrombin III or heparin cofactor II, Biochem. J., 254, 547, 10.1042/bj2540547 Fuller, 2004, Disease-specific markers for the mucopolysaccharidoses, Pediatr. Res., 56, 733, 10.1203/01.PDR.0000141987.69757.DD Tollefsen, 1983, Activation of heparin cofactor II by dermatan sulfate, J. Biol. Chem., 258, 6713, 10.1016/S0021-9258(18)32276-2 He, 2008, Vascular dermatan sulfate regulates the antithrombotic activity of heparin cofactor II, Blood, 111, 4118, 10.1182/blood-2007-12-127928