Human genetic disorders and knockout mice deficient in glycosaminoglycan

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Mizumoto, Shuji ^a   Yamada, Shuhei ^a   Sugahara, Kazuyuki ^b  

^a MEIJO UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE 3' PHOSPHATE 5' PHOSPHOSULFATE; ADENOSINE 3' PHOSPHATE 5' PHOSPHOSULFATE SYNTHASE 2; BETA 1,3 GALACTOSYLTRANSFERASE 3; BETA 1,3 GALACTOSYLTRANSFERASE 6; BETA 1,4 GALACTOSYLTRANSFERASE 7; CARBOHYDRATE SULFOTRANSFERASE; CHONDROITIN 4 O SULFOTRANSFERASE; CHONDROITIN 6 O SULFOTRANSFERASE; CHONDROITIN SULFATE; CHONDROITIN SULFATE N ACETYLGALACTOSAMINYLTRANSFERASE; CHONDROITIN SYNTHASE; DERMATAN; DERMATAN 4 O SULFOTRANSFERASE; DERMATAN SULFATE; DERMATAN SULFATE EPIMERASE LIKE; DERMATAN SULFATE GLUCURONYL C5 EPIMERASE; DISACCHARIDE; ETHYLNITROSOUREA; GLUCURONIC ACID; GLYCOSAMINOGLYCAN; GLYCOSYLTRANSFERASE; HEPARAN SULFATE; HEPARIN; IDURONIC ACID; N ACETYL DEXTRO GALACTOSAMINE 4 SULFATE 6 O SULFOTRANSFERASE; N ACETYLGALACTOSAMINE; POLYSACCHARIDE; PROTEOGLYCAN; SULFOTRANSFERASE; UNCLASSIFIED DRUG; XLOSYLTRANSFERASE I;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIODIVERSITY; BIOSYNTHESIS; BONE DISEASE; CELL INTERACTION; CELL PROLIFERATION; CHEMICAL MODIFICATION; CHONDRODYSPLASIA; CLINICAL FEATURE; EHLERS DANLOS SYNDROME; EPIMERIZATION; GENE MUTATION; GENETIC DISORDER; HUMAN; KNOCKOUT MOUSE; MORPHOGENESIS; NONHUMAN; PHYSIOLOGICAL PROCESS; SIGNAL TRANSDUCTION; SKIN DISEASE; SPONDYLOEPIPHYSEAL DYSPLASIA; TRANSGENIC MOUSE; ANIMAL; GENETICS; MUTATION; PATHOLOGY;

ANIMALS; CELL PROLIFERATION; EHLERS-DANLOS SYNDROME; GLYCOSAMINOGLYCANS; GLYCOSYLTRANSFERASES; HUMANS; MICE, KNOCKOUT; MORPHOGENESIS; MUTATION; OSTEOCHONDRODYSPLASIAS; SIGNAL TRANSDUCTION;

EID: 84925652053     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/495764     Document Type: Article

References (258)

1. L. Kjellen and U. Lindahl, "Proteoglycans: structures and interactions, " Annual Review of Biochemistry, vol. 60, pp. 443-475, 1991.
2. R. V. Iozzo, "Matrix proteoglycans: from molecular design to cellular function, " Annual Review of Biochemistry, vol. 67, pp. 609-652, 1998.
3. M. Bernfield, M. Gotte, P. W. Park et al., "Functions of cell surface heparan sulfate proteoglycans, " Annual Review of Biochemistry, vol. 68, pp. 729-777, 1999.
4. N. Perrimon and M. Bernfield, "Specificities of heparan sulphate proteoglycans in developmental processes, " Nature, vol. 404, no. 6779, pp. 725-728, 2000.
5. K. Sugahara and H. Kitagawa, "Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans, " Current Opinion in Structural Biology, vol. 10, no. 5, pp. 518-527, 2000.
6. J. D. Esko and S. B. Selleck, "Order out of chaos: assembly of ligand binding sites in heparan sulfate, " Annual Review of Biochemistry, vol. 71, pp. 435-471, 2002.
7. S. Mizumoto and K. Sugahara, "Bone and skin disorders caused by a disturbance in the bioynthesis of chondroitin sulfate and dermatan sulfate, " in Extracellular Matrix: Pathobiology and Signaling, N. Karamanos, Ed., pp. 97-118, Walter de Gruyter, Berlin, Germany, 2012.
8. K. Sugahara, T. Mikami, T. Uyama, S. Mizuguchi, K. Nomura, and H. Kitagawa, "Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate, " Current Opinion in Structural Biology, vol. 13, no. 5, pp. 612-620, 2003.
9. T. Mikami and H. Kitagawa, "Biosynthesis and function of chondroitin sulfate, " Biochimica et BiophysicaActa, vol. 1830, no. 10, pp. 4719-4733, 2013.
10. T. Laabs, D. Carulli, H. M. Geller, and J. W. Fawcett, "Chondroitin sulfate proteoglycans in neural development and regeneration, " Current Opinion in Neurobiology, vol. 15, no. 1, pp. 116-120, 2005.
11. M. M. Fuster and J. D. Esko, "The sweet and sour of cancer: glycans as novel therapeutic targets, " Nature Reviews Cancer, vol. 5, no. 7, pp. 526-542, 2005.
12. U. Hacker, K. Nybakken, and N. Perrimon, "Heparan sulphate proteoglycans: the sweet side of development, " Nature Reviews Molecular Cell Biology, vol. 6, no. 7, pp. 530-541, 2005.
13. H. E. Bulow and O. Hobert, "The molecular diversity of glycosaminoglycans shapes animal development, " Annual Review of Cell and Developmental Biology, vol. 22, pp. 375-407, 2006.
14. J. R. Bishop, M. Schuksz, and J. D. Esko, "Heparan sulphate proteoglycans fine-tune mammalian physiology, " Nature, vol. 446, no. 7139, pp. 1030-1037, 2007.
15. K. Sugahara and T. Mikami, "Chondroitin/dermatan sulfate in the central nervous system, " Current Opinion in Structural Biology, vol. 17, no. 5, pp. 536-545, 2007.
16. S. Mizumoto and K. Sugahara, "Glycosaminoglycans are functional ligands for receptor for advanced glycation end-products in tumors, " FEBS Journal, vol. 280, no. 10, pp. 2462-2470, 2013.
17. D. Xu and J. D. Esko, "Demystifying heparan sulfate-protein interactions, " Annual Review of Biochemistry, vol. 83, pp. 129-157, 2014.
18. J. Filmus and M. Capurro, "The role of glypicans in Hedgehog signaling, " Matrix Biology, vol. 35, pp. 248-252, 2014.
19. S. Mizumoto, T. Uyama, T. Mikami, H. Kitagawa, and K. Sugahara, "Biosynthetic pathways for differential expression of functional chondroitin sulfate and heparan sulfate, " in Handbook of Carbohydrate Engineering, K. J. Yarema, Ed., pp. 289-324, CRCPress, Taylor and Francis Group, Boca Raton, Fla, USA, 2005.
20. S. Mizumoto, S. Ikegawa, and K. Sugahara, "Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans, " Journal of Biological Chemistry, vol. 288, no. 16, pp. 10953-10961, 2013.
21. K. V. Venkatachalam, "Human 3′-phosphoadenosine 5′-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency, " IUBMB Life, vol. 55, no. 1, pp. 1-11, 2003.
22. K. Sugahara and N. B. Schwartz, "Defect in 3′-phosphoadenosine 5′-phosphosulfate formation in brachymorphic mice, " Proceedings of the National Academy of Sciences of the United States of America, vol. 76, no. 12, pp. 6615-6618, 1979.
23. K. Kurima, M. L. Warman, S. Krishnan et al., "A member of a family of sulfate-activating enzymes causesmurine brachymorphism, " Proceedings of the National Academy of Sciences of the United States of America, vol. 95, no. 15, pp. 8681-8685, 1998.
24. S. Kamiyama, T. Suda, R. Ueda et al., "Molecular cloning and identification of 3′-phosphoadenosine 5′-phosphosulfate transporter, " Journal of Biological Chemistry, vol. 278, no. 28, pp. 25958-25963, 2003.
25. C. Gotting, J. Kuhn, R. Zahn, T. Brinkmann, and K. Kleesiek, "Molecular cloning and expression of human UDP-D-xylose: proteoglycan core protein β-D-xylosyltransferase and its first isoform XT-II, " Journal ofMolecular Biology, vol. 304, no. 4, pp. 517-528, 2000.
26. C. Ponighaus, M. Ambrosius, J. C. Casanova et al., "Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans, " Journal of Biological Chemistry, vol. 282, no. 8, pp. 5201-5206, 2007.
27. R. Almeida, S. B. Levery, U. Mandel et al., "Cloning and expression of a proteoglycan UDP-galactose:β-xylose β1, 4-galactosyltransferase I. A seventh member of the human β4-galactosyltransferase gene family, " Journal of Biological Chemistry, vol. 274, no. 37, pp. 26165-26171, 1999.
28. T. Okajima, K. Yoshida, T. Kondo, and K. Furukawa, "Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, " Journal of Biological Chemistry, vol. 274, no. 33, pp. 22915-22918, 1999.
29. X. Bai, D. Zhou, J. R. Brown, B. E. Crawford, T. Hennet, and J. D. Esko, "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the β1, 3-galactosyltransferase family (β3GalT6), " Journal of Biological Chemistry, vol. 276, no. 51, pp. 48189-48195, 2001.
30. H. Kitagawa, Y. Tone, J.-I. Tamura et al., "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, " Journal of Biological Chemistry, vol. 273, no. 12, pp. 6615-6618, 1998.
31. N. B. Schwartz, L. Roden, and A. Dorfman, "Biosynthesis of chondroitin sulfate: interaction between xylosyltransferase and galactosyltransferase, " Biochemical and Biophysical Research Communications, vol. 56, no. 3, pp. 717-724, 1974.
32. J. Presto, M. Thuveson, P. Carlsson et al., "Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation, " Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 12, pp. 4751-4756, 2008.
33. T. Koike, T. Izumikawa, J.-I. Tamura, and H. Kitagawa, "FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region, " Biochemical Journal, vol. 421, no. 2, pp. 157-162, 2009.
34. T. Koike, T. Izumikawa, B. Sato, and H. Kitagawa, "Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans, " Journal of Biological Chemistry, vol. 289, no. 10, pp. 6695-6708, 2014.
35. H. Kitagawa, K. Tsutsumi, A. Ikegami-Kuzuhara et al., "Sulfation of the galactose residues in the glycosaminoglycanprotein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1, " Journal of Biological Chemistry, vol. 283, no. 41, pp. 27438-27443, 2008.
36. S. Gulberti, V. Lattard, M. Fondeur et al., "Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human β1, 4-galactosyltransferase 7 (GalT-I) and β1, 3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, " Journal of Biological Chemistry, vol. 280, no. 2, pp. 1417-1425, 2005.
37. Y. Tone, L. C. Pedersen, T. Yamamoto et al., "2-O-phosphorylation of xylose and 6-O-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis, " Journal of Biological Chemistry, vol. 283, no. 24, pp. 16801-16807, 2008.
38. A. Superti-Furga, J. Hastbacka, W. R. Wilcox et al., "Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene, "NatureGenetics, vol. 12, no. 1, pp. 100-102, 1996.
39. J. Hastbacka, A. Superti-Furga, W. R. Wilcox, D. L. Rimoin, D. H. Cohn, and E. S. Lander, "Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias, " American Journal of Human Genetics, vol. 58, no. 2, pp. 255-262, 1996.
40. A. Rossi, H. J. Van Der Harten, F. A. Beemer et al., "Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia, " Human Genetics, vol. 98, no. 6, pp. 657-661, 1996.
41. A. Forlino, R. Piazza, C. Tiveron et al., "A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype, " HumanMolecular Genetics, vol. 14, no. 6, pp. 859-871, 2005.
42. S. Hiraoka, T. Furuichi, G. Nishimura et al., "Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human, " Nature Medicine, vol. 13, no. 11, pp. 1363-1367, 2007.
43. M. Faiyaz UlHaque, L. M. King, D. Krakow et al., "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse, " Nature Genetics, vol. 20, no. 2, pp. 157-162, 1998.
44. B. Tuysuz, S. Yilmaz, E. Gul et al., "Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype, " American Journal of Medical Genetics Part A, vol. 161, no. 6, pp. 1300-1308, 2013.
45. C. Noordam, V. Dhir, J. C. McNelis et al., "Inactivating PAPSS2 mutations in a patient with premature pubarche, " New England Journal of Medicine, vol. 360, no. 22, pp. 2310-2318, 2009.
46. N. Miyake, N. H. Elcioglu, A. Iida et al., "PAPSS2 mutations cause autosomal recessive brachyolmia, " Journal of Medical Genetics, vol. 49, no. 8, pp. 533-538, 2012.
47. A. Iida, P. O. Simsek-Kiper, S. Mizumoto et al., "Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations, " Human Mutation, vol. 34, no. 10, pp. 1381-1386, 2013.
48. M. Shohat, R. Lachman, H. E. Gruber, and D. L. Rimoin, "Brachyolmia: radiographic and genetic evidence of heterogeneity, " American Journal ofMedical Genetics, vol. 33, no. 2, pp. 209-219, 1989.
49. P. W. Lane and M. M. Dickie, "Three recessive mutations producing disproportionate dwarfing in mice: aehondroplasia, brachymorphic, and stubby, " Journal of Heredity, vol. 59, no. 5, pp. 300-308, 1968.
50. R. W. Orkin, R. M. Pratt, and G. R. Martin, "Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice, " Developmental Biology, vol. 50, no. 1, pp. 82-94, 1976.
51. K. Sugahara and N. B. Schwartz, "Defect in 3′ -phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice. I. Characterization of the defect, " Archives of Biochemistry and Biophysics, vol. 214, no. 2, pp. 589-601, 1982.
52. K. Sugahara and N. B. Schwartz, "Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice. II. Tissue distribution of the defect, " Archives of Biochemistry and Biophysics, vol. 214, no. 2, pp. 602-609, 1982.
53. M. Cortes, A. T. Baria, and N. B. Schwartz, "Sulfation of chondroitin sulfateproteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate, " Development, vol. 136, no. 10, pp. 1697-1706, 2009.
54. L. E. L. M. Vissers, E. Lausch, S. Unger et al., "Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP, " American Journal of Human Genetics, vol. 88, no. 5, pp. 608-615, 2011.
55. J. P. Frederick, A. T. Tafari, S.-M. Wu et al., "A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation, " Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 33, pp. 11605-11612, 2008.
56. J. Schreml, B. Durmaz, O. Cogulu et al., "The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1mutation, " Human Genetics, vol. 133, no. 1, pp. 29-39, 2014.
57. L. Faivre, V. Cormier-Daire, A. M. Eliott et al., "Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations, " American Journal of Medical Genetics, vol. 124, no. 1, pp. 48-53, 2004.
58. C. Bui, C. Huber, B. Tuysuz et al., "XYLT1 mutations in Desbuquois dysplasia type 2, " American Journal of Human Genetics, vol. 94, no. 3, pp. 405-414, 2014.
59. E. K. Mis, K. F. Liem, Y. Kong, N. B. Schwartz, M. Domowicz, and S. D. Weatherbee, "Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length, " Developmental Biology, vol. 385, no. 1, pp. 67-82, 2014.
60. E. Condac, R. Silasi-Mansat, S. Kosanke et al., "Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis, " Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 22, pp. 9416-9421, 2007.
61. E. Quentin, A. Gladen, L. Roden, and H. Kresse, "A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome, " Proceedings of the National Academy of Sciences of the United States of America, vol. 87, no. 4, pp. 1342-1346, 1990.
62. T. Okajima, S. Fukumoto, K. Furukawat, T. Urano, and K. Furukawa, "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene, " Journal of Biological Chemistry, vol. 274, no. 41, pp. 28841-28844, 1999.
63. M. Faiyaz-Ul-Haque, S. H. E. Zaidi, M. Al-Ali et al., "A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type, " American Journal of Medical Genetics, vol. 128, no. 1, pp. 39-45, 2004.
64. D. G. Seidler, M. Faiyaz-Ul-Haque, U. Hansen et al., "Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7), " Journal of Molecular Medicine, vol. 84, no. 7, pp. 583-594, 2006.
65. M. Gotte and H. Kresse, "Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (β4GalT-7) gene, " Biochemical Genetics, vol. 43, no. 1-2, pp. 65-77, 2005.
66. M. Gotte, D. Spillmann, G. W. Yip et al., "Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (β4GalT-7) deficient formof Ehlers-Danlos syndrome, " Human Molecular Genetics, vol. 17, no. 7, pp. 996-1009, 2008.
67. C. Bui, I. Talhaoui, M. Chabel et al., "Molecular characterization of β1, 4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS), " FEBS Letters, vol. 584, no. 18, pp. 3962-3968, 2010.
68. S. Rahuel-Clermont, F. Daligault, M.-H. Piet et al., "Biochemical and thermodynamic characterization of mutated β1, 4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome, " Biochemical Journal, vol. 432, no. 2, pp. 303-311, 2010.
69. F. Cartault, P. Munier, M. L. Jacquemont et al., "Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p. R270Cmutationwith founder effect causes Larsenof Reunion Island syndrome, " European Journal of Human Genetics, 2014, In press.
70. M. Nakajima, S. Mizumoto, N. Miyake et al., "Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders, " American Journal of Human Genetics, vol. 92, no. 6, pp. 927-934, 2013.
71. F. Malfait, A. Kariminejad, T. Van Damme et al., "Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder, " American Journal of Human Genetics, vol. 92, no. 6, pp. 935-945, 2013.
72. A. A. Vorster, P. Beighton, and R. S. Ramesar, "Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in 8 affected south african families, " Clinical Genetics, 2014, In press.
73. S. Baasanjav, L. Al-Gazali, T. Hashiguchi et al., "Faulty initiation of proteoglycan synthesis causes cardiac and joint defects, " American Journal of Human Genetics, vol. 89, no. 1, pp. 15-27, 2011.
74. J. E. von Oettingen, W. H. Tan, and A. Dauber, "Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype, " American Journal ofMedical Genetics Part A, vol. 164, no. 6, pp. 1580-1586, 2014.
75. T. Izumikawa, N. Kanagawa, Y. Watamoto et al., "Impairment of embryonic cell division and glycosaminoglycan biosynthesis in glucuronyltransferase-I-deficient mice, " Journal of Biological Chemistry, vol. 285, no. 16, pp. 12190-12196, 2010.
76. T. Izumikawa, B. Sato, and H. Kitagawa, "Chondroitin sulfate is indispensable for pluripotency and differentiation of mouse embryonic stem cells, " Scientific Reports, vol. 4, article 3701, 2014.
77. Y. Li, K. Laue, S. Temtamy et al., "Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling, " American Journal of Human Genetics, vol. 87, no. 6, pp. 757-767, 2010.
78. J. Tian, L. Ling, M. Shboul et al., "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling, " American Journal of Human Genetics, vol. 87, no. 6, pp. 768-778, 2010.
79. G. Sher and M. Naeem, "A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family, " European Journal of Medical Genetics, vol. 57, no. 1, pp. 21-24, 2014.
80. T. Izumikawa, K. Saigoh, J. Shimizu, S. Tsuji, S. Kusunoki, and H. Kitagawa, "A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1, " Biochimica et Biophysica Acta, vol. 1830, no. 10, pp. 4806-4812, 2013.
81. D. G. Wilson, K. Phamluong, W. Y. Lin et al., "Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning, "Developmental Biology, vol. 363, no. 2, pp. 413-425, 2012.
82. H. Ogawa, S. Hatano, N. Sugiura et al., "Chondroitin sulfate synthase-2 is necessary for chain extension of chondroitin sulfate but not critical for skeletal development, " PLoS ONE, vol. 7, no. 8, Article ID e43806, 2012.
83. K. Saigoh, T. Izumikawa, T. Koike, J. Shimizu, H. Kitagawa, and S. Kusunoki, "Chondroitin beta-1, 4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies, " Journal of Human Genetics, vol. 56, no. 2, pp. 143-146, 2011.
84. Y. Watanabe, K. Takeuchi, S. Higa Onaga et al., "Chondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage development, " Biochemical Journal, vol. 432, no. 1, pp. 47-55, 2010.
85. T. Sato, T. Kudo, Y. Ikehara et al., "Chondroitin sulfate Nacetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolism, " Journal of Biological Chemistry, vol. 286, no. 7, pp. 5803-5812, 2011.
86. K. Takeuchi, N. Yoshioka, S. Higa Onaga et al., "Chondroitin sulphate N-acetylgalactosaminyl-transferase-1 inhibits recovery from neural injury, " Nature Communications, vol. 4, article 2740, 2013.
87. T. Muller, S. Mizumoto, I. Suresh et al., "Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome, " Human Molecular Genetics, vol. 22, no. 18, pp. 3761-3772, 2013.
88. M. Maccarana, S. Kalamajski, M. Kongsgaard, S. Peter Magnusson, A. Oldberg, and A. Malmstrom, "Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin, " Molecular and Cellular Biology, vol. 29, no. 20, pp. 5517-5528, 2009.
89. B. Bartolini, M. A. Thelin, L. Svensson et al., "Iduronic acid in chondroitin/dermatan sulfate affects directional migration of aortic smooth muscle cells, " PLoS ONE, vol. 8, no. 7, Article ID e66704, 2013.
90. D. Goossens, S. Van Gestel, S. Claes et al., "A novel CpGassociated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder, " Molecular Psychiatry, vol. 8, no. 1, pp. 83-89, 2003.
91. H. Zayed, R. Chao, A. Moshrefi et al., "A maternally inherited chromosome 18q22. 1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia -Evaluation of DSEL as a candidate gene for the diaphragmatic defect, " American Journal ofMedical Genetics, Part A, vol. 152, no. 4, pp. 916-923, 2010.
92. J. Shi, J. B. Potash, J. A. Knowles et al., "Genome-wide association study of recurrent early-onset major depressive disorder, " Molecular Psychiatry, vol. 16, no. 2, pp. 193-201, 2011.
93. B. Bartolini, M. A. Thelin, U. Rauch et al., "Mouse development is not obviously affected by the absence of dermatan sulfate epimerase 2 in spite of a modified brain dermatan sulfate composition, " Glycobiology, vol. 22, no. 7, pp. 1007-1016, 2012.
94. M. Kluppel, K. A. Vallis, and J. L. Wrana, "A high-throughput induction gene trap approach defines C4ST as a target of BMP signaling, " Mechanisms of Development, vol. 118, no. 1-2, pp. 77-89, 2002.
95. M. Kluppel, T. N. Wight, C. Chan, A. Hinek, and J. L. Wrana, "Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis, " Development, vol. 132, no. 17, pp. 3989-4003, 2005.
96. S. Bian, N. Akyuz, C. Bernreuther et al., "Dermatan sulfotransferase Chst14/d4st1, but not chondroitin sulfotransferase Chst11/C4st1, regulates proliferation and neurogenesis of neural progenitor cells, " Journal of Cell Science, vol. 124, no. 23, pp. 4051-4063, 2011.
97. T. Kosho, J. Takahashi, H. Ohashi, G. Nishimura, H. Kato, and Y. Fukushima, "Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls, " American Journal of Medical Genetics, vol. 138, no. 3, pp. 282-287, 2005.
98. T. Kosho, N. Miyake, A. Hatamochi et al., "A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations, " American Journal of Medical Genetics, Part A, vol. 152, no. 6, pp. 1333-1346, 2010.
99. N. Miyake, T. Kosho, S. Mizumoto et al., "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome, " Human Mutation, vol. 31, no. 8, pp. 966-974, 2010.
100. F. Malfait, D. Syx, P. Vlummens et al., "Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene, " Human Mutation, vol. 31, no. 11, pp. 1233-1239, 2010.
101. K. Shimizu, N. Okamoto, N. Miyake et al., "Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive reviewof 20 reported patients, "American Journal ofMedical Genetics, Part A, vol. 155, no. 8, pp. 1949-1958, 2011.
102. K. A. Winters, Z. Jiang, W. Xu et al., "Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumbclubfoot syndrome) after initial diagnosis of Marden-Walker syndrome, " American Journal ofMedical Genetics A, vol. 158, no. 11, pp. 2935-2940, 2012.
103. N. C. Voermans, M. Kempers, M. Lammens et al., "Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation, " American Journal of MedicalGenetics, Part A, vol. 158, no. 4, pp. 850-855, 2012.
104. M. Dundar, T. Muller, Q. Zhang et al., "Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome, " American Journal of Human Genetics, vol. 85, no. 6, pp. 873-882, 2009.
105. M. Dundar, F. Demiryilmaz, I. Demiryilmaz et al., "An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins, " Clinical Genetics, vol. 51, no. 1, pp. 61-64, 1997.
106. T. Sonoda and K. Kouno, "Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?" American Journal of Medical Genetics, vol. 91, no. 4, pp. 280-285, 2000.
107. N. Akyuz, S. Rost, A. Mehanna et al., "Dermatan 4-Osulfotransferase1 ablation accelerates peripheral nerve regeneration, " Experimental Neurology, vol. 247, pp. 517-530, 2013.
108. A. Rajab, J. Kunze, and S. Mundlos, "Spondyloepiphyseal dysplasia Omani type: a new recessive type of SEDwith progressive spinal involvement, " American Journal of Medical Genetics, vol. 126, no. 4, pp. 413-419, 2004.
109. H. Thiele, M. Sakano, H. Kitagawa et al., "Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement, " Proceedings of the National Academy of Sciences of the United States of America, vol. 101, no. 27, pp. 10155-10160, 2004.
110. M. H. H. Van Roij, S. Mizumoto, S. Yamada et al., "Spondyloepiphyseal dysplasia, omani type: further definition of the phenotype, " American Journal of Medical Genetics, Part A, vol. 146, no. 18, pp. 2376-2384, 2008.
111. B. Tuysuz, S. Mizumoto, K. Sugahara, A. Celebi, S. Mundlos, and S. Turkmen, "Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missensemutation in CHST3, " Clinical Genetics, vol. 75, no. 4, pp. 375-383, 2009.
112. P. Hermanns, S. Unger, A. Rossi et al., "Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive larsen syndrome and humero-spinal dysostosis, " American Journal of Human Genetics, vol. 82, no. 6, pp. 1368-1374, 2008.
113. S. Unger, E. Lausch, A. Rossi et al., "Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features, " American Journal ofMedical Genetics, Part A, vol. 152, no. 10, pp. 2543-2549, 2010.
114. K. Uchimura, K. Kadomatsu, H. Nishimura et al., "Functional analysis of the chondroitin 6-sulfotransferase gene in relation to lymphocyte subpopulations, brain development, and oversulfated chondroitin sulfates, " Journal of Biological Chemistry, vol. 277, no. 2, pp. 1443-1450, 2002.
115. R. Lin, T. W. Rosahl, P. J. Whiting, J. W. Fawcett, and J. C. F. Kwok, "6-Sulphated chondroitins have a positive influence on axonal regeneration, " PLoS ONE, vol. 6, no. 7, Article ID e21499, 2011.
116. S. Miyata, Y. Komatsu, Y. Yoshimura, C. Taya, and H. Kitagawa, "Persistent cortical plasticity by upregulation of chondroitin 6-sulfation, " Nature Neuroscience, vol. 15, no. 3, pp. 414-422, 2012.
117. S. Ohtake-Niimi, S. Kondo, T. Ito et al., "Mice deficient in N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase are unable to synthesize chondroitin/dermatan sulfate containing N-acetylgalactosamine 4, 6-bissulfate residues and exhibit decreased protease activity in bonemarrow-derivedmast cells, " Journal of Biological Chemistry, vol. 285, no. 27, pp. 20793-20805, 2010.
118. B. M. Zak, B. E. Crawford, and J. D. Esko, "Hereditary multiple exostoses and heparan sulfate polymerization, " Biochimica et Biophysica Acta -General Subjects, vol. 1573, no. 3, pp. 346-355, 2002.
119. X. Lin, G. Wei, Z. Shi et al., "Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice, " Developmental Biology, vol. 224, no. 2, pp. 299-311, 2000.
120. L. Koziel, M. Kunath, O. G. Kelly, and A. Vortkamp, "Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification, " Developmental Cell, vol. 6, no. 6, pp. 801-813, 2004.
121. S. Yamada, M. Busse, M. Ueno et al., "Embryonic fibroblasts with a gene trapmutation in Ext1 produce short heparan sulfate chains, " Journal of Biological Chemistry, vol. 279, no. 31, pp. 32134-32141, 2004.
122. D. C. Kraushaar, Y. Yamaguchi, and L. Wang, "Heparan sulfate is required for embryonic stem cells to exit from self-renewal, " Journal of Biological Chemistry, vol. 285, no. 8, pp. 5907-5916, 2010.
123. D. C. Kraushaar, S. Rai, E. Condac et al., "Heparan sulfate facilitates FGF and BMPsignaling to drive mesodermdifferentiation of mouse embryonic stem cells, " Journal of Biological Chemistry, vol. 287, no. 27, pp. 22691-22700, 2012.
124. M. Inatani, F. Irie, A. S. Plump, M. Tessier-Lavigne, and Y. Yamaguchi, "Mammalian brain morphogenesis and midline axon guidance require heparan sulfate, " Science, vol. 302, no. 5647, pp. 1044-1046, 2003.
125. Y. Matsumoto, F. Irie, M. Inatani, M. Tessier-Lavigne, and Y. Yamaguchi, "Netrin-1/DCC signaling in commissural axon guidance requires cell-autonomous expression of heparan sulfate, " Journal of Neuroscience, vol. 27, no. 16, pp. 4342-4350, 2007.
126. Y. Yamaguchi, M. Inatani, Y. Matsumoto, J. Ogawa, and F. Irie, "Roles of heparan sulfate in mammalian brain development: current views based on the findings from ext1 conditional knockout studies, " Progress in Molecular Biology and Translational Science, vol. 93, pp. 133-152, 2010.
127. F. Irie, H. Badie-Mahdavi, and Y. Yamaguchi, "Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate, " Proceedings of theNationalAcademy of Sciences of the United States of America, vol. 109, no. 13, pp. 5052-5056, 2012.
128. B. M. Zak, M. Schuksz, E. Koyama et al., "Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses inmouse ribs and long bones, " Bone, vol. 48, no. 5, pp. 979-987, 2011.
129. Y. Matsumoto, K. Matsumoto, F. Irie, J.-I. Fukushi, W. B. Stallcup, and Y. Yamaguchi, "Conditional ablation of the heparan sulfate-synthesizing enzyme Ext1 leads to dysregulation of bone morphogenic protein signaling and severe skeletal defects, " Journal of Biological Chemistry, vol. 285, no. 25, pp. 19227-19234, 2010.
130. C. Mundy, T. Yasuda, T. Kinumatsu et al., "Synovial joint formation requires local Ext1 expression and heparan sulfate production in developing mouse embryo limbs and spine, " Developmental Biology, vol. 351, no. 1, pp. 70-81, 2011.
131. J. Huegel, C. Mundy, F. Sgariglia et al., "Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses, " Developmental Biology, vol. 377, no. 1, pp. 100-112, 2013.
132. F. Sgariglia, M. E. Candela, and J. Huegel, "Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice, " Bone, vol. 57, no. 1, pp. 220-231, 2013.
133. S. Chen, D. J. Wassenhove-McCarthy, Y. Yamaguchi et al., "Loss of heparan sulfate glycosaminoglycan assembly in podocytes does not lead to proteinuria, " Kidney International, vol. 74, no. 3, pp. 289-299, 2008.
134. X. Bao, E. A. Moseman, H. Saito et al., "Endothelial heparan sulfate controls chemokine presentation in recruitment of lymphocytes and dendritic cells to lymph nodes, " Immunity, vol. 33, no. 5, pp. 817-829, 2010.
135. K. Tsuboi, J. Hirakawa, E. Seki et al., "Role of high endothelial venule-expressed heparan sulfate in chemokine presentation and lymphocyte homing, " Journal of Immunology, vol. 191, no. 1, pp. 448-455, 2013.
136. D. Stickens, B. M. Zak, N. Rougler, J. D. Esko, and Z. Werb, "Mice deficient in Ext2 lack heparan sulfate and develop exostoses, " Development, vol. 132, no. 22, pp. 5055-5068, 2005.
137. S. Nadanaka, S. Kagiyama, and H. Kitagawa, "Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes, " Biochemical Journal, vol. 454, no. 1, pp. 133-145, 2013.
138. S. Nadanaka, S. Zhou, S. Kagiyama et al., "EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependentmanner, " Journal of Biological Chemistry, vol. 288, no. 13, pp. 9321-9333, 2013.
139. I. Takahashi, N. Noguchi, K. Nata et al., "Important role of heparan sulfate in postnatal islet growth and insulin secretion, " Biochemical and Biophysical Research Communications, vol. 383, no. 1, pp. 113-118, 2009.
140. G. Fan, L. Xiao, L. Cheng, X. Wang, B. Sun, and G. Hu, "Targeted disruption of NDST-1 gene leads to pulmonary hypoplasia and neonatal respiratory distress in mice, " FEBS Letters, vol. 467, no. 1, pp. 7-11, 2000.
141. M. Ringvall, J. Ledin, K. Holmborn et al., "Defective heparan sulfate biosynthesis and neonatal lethality in mice lacking Ndeacetylase/N-sulfotransferase-1, " Journal of Biological Chemistry, vol. 275, no. 34, pp. 25926-25930, 2000.
142. K. Grobe, M. Inatani, S. R. Pallerla, J. Castagnola, Y. Yamaguchi, and J. D. Esko, "Cerebral hypoplasia and craniofacial defects in mice lacking heparan sulfate Ndst1 gene function, " Development, vol. 132, no. 16, pp. 3777-3786, 2005.
143. L. Wang, M. Fuster, P. Sriramarao, and J. D. Esko, "Endothelial heparan sulfate deficiency impairs L-selectin-and chemokinemediated neutrophil trafficking during inflammatory responses, " Nature Immunology, vol. 6, no. 9, pp. 902-910, 2005.
144. J. Ledin, M. Ringvall, M. Thuveson et al., "Enzymatically activeN-deacetylase/N-sulfotransferase-2 is present in liver but does not contribute to heparan sulfate N-sulfation, " Journal of Biological Chemistry, vol. 281, no. 47, pp. 35727-35734, 2006.
145. Y. Pan, A. Woodbury, J. D. Esko, K. Grobe, and X. Zhang, "Heparan sulfate biosynthetic gene Ndst1 is required for FGF signaling in early lens development, " Development, vol. 133, no. 24, pp. 4933-4944, 2006.
146. S. R. Pallerla, Y. Pan, X. Zhang, J. D. Esko, and K. Grobe, "Heparan sulfate Ndst1 gene function variably regulates multiple signaling pathways duringmouse development, " Developmental Dynamics, vol. 236, no. 2, pp. 556-563, 2007.
147. M. M. Fuster, L. Wang, J. Castagnola et al., "Genetic alteration of endothelial heparan sulfate selectively inhibits tumor angiogenesis, " Journal of Cell Biology, vol. 177, no. 3, pp. 539-549, 2007.
148. J. M. MacArthur, J. R. Bishop, K. I. Stanfordet al., "Liver heparan sulfate proteoglycans mediate clearance of triglyceride-rich lipoproteins independently of LDL receptor family members, " Journal of Clinical Investigation, vol. 117, no. 1, pp. 153-164, 2007.
149. Y. Pan, C. Carbe, A. Powers et al., "Bud specific N-sulfation of heparan sulfate regulates Shp2-dependent FGFsignaling during lacrimal gland induction, " Development, vol. 135, no. 2, pp. 301-310, 2008.
150. O. B. Garner, Y. Yamaguchi, J. D. Esko, and V. Videm, "Small changes in lymphocyte development and activation in mice through tissue-specific alteration of heparan sulphate, " Immunology, vol. 125, no. 3, pp. 420-429, 2008.
151. R. I. Zuberi, X. N. Ge, S. Jiang et al., "Deficiency of endothelial heparan sulfates attenuates allergic airway inflammation, " Journal of Immunology, vol. 183, no. 6, pp. 3971-3979, 2009.
152. Z. Hu, C. Wang, Y. Xiao et al., "NDST1-dependent Heparan sulfate regulates BMP signaling and internalization in lung development, " Journal of Cell Science, vol. 122, no. 8, pp. 1145-1154, 2009.
153. K. I. Stanford, L. Wang, J. Castagnola et al., "Heparan sulfate 2-O-sulfotransferase is required for triglyceride-rich lipoprotein clearance, " Journal of Biological Chemistry, vol. 285, no. 1, pp. 286-294, 2010.
154. N. Adhikari, D. L. Basi, D. Townsend et al., "Heparan sulfate Ndst1 regulates vascular smoothmuscle cell proliferation, vessel size and vascular remodeling, " Journal ofMolecular and Cellular Cardiology, vol. 49, no. 2, pp. 287-293, 2010.
155. E. Dai, L.-Y. Liu, H. Wang et al., "Inhibition of Chemokine-Glycosaminoglycan interactions in donor tissue reduces mouse allograft vasculopathy and transplant rejection, " PLoS ONE, vol. 5, no. 5, Article IDe10510, 2010.
156. B. E. Crawford, O. B. Garner, J. R. Bishop et al., "Loss of the heparan sulfate sulfotransferase, Ndst1, in mammary epithelial cells selectively blocks lobuloalveolar development in mice, " PLoS ONE, vol. 5, no. 5, Article ID e10691, 2010.
157. O. B. Garner, K. T. Bush, K. B. Nigam et al., "Stage-dependent regulation of mammary ductal branching by heparan sulfate and HGF-cMet signaling, " Developmental Biology, vol. 355, no. 2, pp. 394-403, 2011.
158. A. Dagalv, K. Holmborn, L. Kjellen, and M. Abrink, "Lowered expression of heparan sulfate/heparin biosynthesis enzyme Ndeacetylase/N-sulfotransferase 1 results in increased sulfation of mast cell heparin, " Journal of Biological Chemistry, vol. 286, no. 52, pp. 44433-44440, 2011.
159. M. Forsberg, K. Holmborn, S. Kundu, A. Dagalv, L. Kjellen, and K. Forsberg-Nilsson, "Undersulfation of heparan sulfate restricts differentiation potential of mouse embryonic stem cells, " Journal of Biological Chemistry, vol. 287, no. 14, pp. 10853-10862, 2012.
160. K. R. C. Montaniel, M. Billaud, C. Graham et al., "Smooth muscle specific deletion of ndst1 leads to decreased vessel luminal area and no change in blood pressure in conscious mice, " Journal of Cardiovascular Translational Research, vol. 5, no. 3, pp. 274-279, 2012.
161. K. T. Bush, B. E. Crawford, O. B. Garner, K. B. Nigam, J. D. Esko, and S. K. Nigam, "N-sulfation of heparan sulfate regulates early branching events in the developing mammary gland, " Journal of Biological Chemistry, vol. 287, no. 50, pp. 42064-42070, 2012.
162. J. Axelsson, D. Xu, B. N. Kang et al., "Inactivation of heparan sulfate 2-O-sulfotransferase accentuates neutrophil infiltration during acute inflammation in mice, " Blood, vol. 120, no. 8, pp. 1742-1751, 2012.
163. E. M. Foley, P. L. S. M. Gordts, K. I. Stanfordet al., "Hepatic remnant lipoprotein clearance by heparan sulfate proteoglycans and low-density lipoprotein receptors depend on dietary conditions in mice, " Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 33, no. 9, pp. 2065-2074, 2013.
164. T. Sugar, D. J. Wassenhove-McCarthy, J. D. Esko, T. H. van Kuppevelt, L. Holzman, and K. J. McCarthy, "Podocyte-specific deletion of NDST1, a key enzyme in the sulfation of heparan sulfate glycosaminoglycans, leads to abnormalities in podocyte organization in vivo, " Kidney International, 2013.
165. D. E. Humphries, G. W. Wong, D. S. Friend et al., "Heparin is essential for the storage of specific granule proteases in mast cells, " Nature, vol. 400, no. 6746, pp. 769-772, 1999.
166. E. Forsberg, G. Pejler, M. Ringvall et al., "Abnormal mast cells in mice deficient in a heparin-synthesizing enzyme, " Nature, vol. 400, no. 6746, pp. 773-776, 1999.
167. T. V. Karlsen, V. V. Iversen, E. Forsberg, L. Kjellen, R. K. Reed, and E.-A. B. Gjerde, "Neurogenic inflammation in mice deficient in heparin-synthesizing enzyme, " American Journal of Physiology -Heart and Circulatory Physiology, vol. 286, no. 3, pp. H884-H888, 2004.
168. S. R. Pallerla, R. Lawrence, L. Lewejohann et al., "Altered heparan sulfate structure in mice with deleted NDST3 gene function, " Journal of Biological Chemistry, vol. 283, no. 24, pp. 16885-16894, 2008.
169. J.-P. Li, F. Gong, A. Hagner-McWhirter et al., "Targeted disruption of a murine glucuronyl C5-epimerase gene results in heparan sulfate lacking L-iduronic acid and in neonatal lethality, " Journal of Biological Chemistry, vol. 278, no. 31, pp. 28363-28366, 2003.
170. J. Jia, M. Maccarana, X. Zhang, M. Bespalov, U. Lindahl, and J.-P. Li, "Lack of L-iduronic acid in heparan sulfate affects interaction with growth factors and cell signaling, " Journal of Biological Chemistry, vol. 284, no. 23, pp. 15942-15950, 2009.
171. R. M. Reijmers, M. F. R. Vondenhoff, R. Roozendaal et al., "Impaired lymphoid organ development in mice lacking the heparan sulfate modifying enzyme glucuronyl C5-epimerase, " Journal of Immunology, vol. 184, no. 7, pp. 3656-3664, 2010.
172. R. M. Reijmers, R. W. J. Groen, A. Kuil et al., "Disruption of heparan sulfate proteoglycan conformation perturbs B-cell maturation and APRIL-mediated plasma cell survival, " Blood, vol. 117, no. 23, pp. 6162-6171, 2011.
173. S. L. Bullock, J. M. Fletcher, R. S. P. Beddington, and V. A. Wilson, "Renal agenesis in mice homozygous for a gene trap mutation in the gene encoding heparan sulfate 2-sulfotransferase, " Genes and Development, vol. 12, no. 12, pp. 1894-1906, 1998.
174. M. M. Shah, H. Sakurai, D. E. Sweeney et al., "Hs2st mediated kidney mesenchyme induction regulates early ureteric bud branching, " Developmental Biology, vol. 339, no. 2, pp. 354-365, 2010.
175. C. L. R. Merry, S. L. Bullock, D. C. Swan et al., "The Molecular Phenotype of Heparan Sulfate in the Hs2st-/-Mutant Mouse, " Journal of Biological Chemistry, vol. 276, no. 38, pp. 35429-35434, 2001.
176. D. McLaughlin, F. Karlsson, N. Tian et al., "Specific modification of heparan sulphate is required for normal cerebral cortical development, " Mechanisms of Development, vol. 120, no. 12, pp. 1481-1488, 2003.
177. T. Pratt, C. D. Conway, N. M. M.-L. Tian, D. J. Price, and J. O. Mason, "Heparan sulphation patterns generated by specific heparan sulfotransferase enzymes direct distinct aspects of retinal axon guidance at the optic chiasm, " Journal of Neuroscience, vol. 26, no. 26, pp. 6911-6923, 2006.
178. C. D. Conway, K. M. Howe, N. K. Nettleton, D. J. Price, J. O. Mason, and T. Pratt, "Heparan sulfate sugar modifications mediate the functions of Slits and other factors needed for mouse forebrain commissure development, " Journal of Neuroscience, vol. 31, no. 6, pp. 1955-1970, 2011.
179. C. D. Conway, D. J. Price, T. Pratt, and J. O. Mason, "Analysis of axon guidance defects at the optic chiasm in heparan sulphate sulphotransferase compound mutant mice, " Journal of Anatomy, vol. 219, no. 6, pp. 734-742, 2011.
180. J. Tornberg, G. P. Sykiotis, K. Keefe et al., "Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism, " Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 28, pp. 11524-11529, 2011.
181. H. Habuchi, N. Nagai, N. Sugaya, F. Atsumi, R. L. Stevens, and K. Kimata, "Mice deficient in heparan sulfate 6-Osulfotransferase-1 exhibit defective heparan sulfate biosynthesis, abnormal placentation, and late embryonic lethality, " Journal of Biological Chemistry, vol. 282, no. 21, pp. 15578-15588, 2007.
182. M. F. Anower-E-Khuda, H. Habuchi, N. Nagai, O. Habuchi, T. Yokochi, and K. Kimata, "Heparan sulfate 6-O-sulfotransferase isoform-dependent regulatory effects of heparin on the activities of various proteases in mast cells and the biosynthesis of 6-O-sulfated heparin, " Journal of Biological Chemistry, vol. 288, no. 6, pp. 3705-3717, 2013.
183. N. Nagai, H. Habuchi, N. Sugaya et al., "Involvement of heparan sulfate 6-O-sulfation in the regulation of energy metabolism and the alteration of thyroid hormone levels in male mice, " Glycobiology, vol. 23, no. 8, pp. 980-992, 2013.
184. S. HajMohammadi, K. Enjyoji, M. Princivalle et al., "Normal levels of anticoagulant heparan sulfate are not essential for normal hemostasis, " Journal of Clinical Investigation, vol. 111, no. 7, pp. 989-999, 2003.
185. W. C. Lamanna, R. J. Baldwin, M. Padva et al., "Heparan sulfate 6-O-endosulfatases: discrete in vivo activities and functional co-operativity, " Biochemical Journal, vol. 400, no. 1, pp. 63-73, 2006.
186. C. R. Holst, H. Bou-Reslan, B. B. Gore et al., "Secreted sulfatases Sulf1 and Sulf2 have overlapping yet essential roles in mouse neonatal survival, " PLoS ONE, vol. 2, no. 6, article e575, 2007.
187. S. Otsuki, S. R. Hanson, S. Miyaki et al., "Extracellular sulfatases support cartilage homeostasis by regulating BMP and FGF signaling pathways, " Proceedings of the National Academy of Sciences of the United States of America, vol. 107, no. 22, pp. 10202-10207, 2010.
188. S. Hayano, H. Kurosaka, T. Yanagita et al., "Roles of heparan sulfate sulfation indentinogenesis, " Journal of Biological Chemistry, vol. 287, no. 15, pp. 12217-12229, 2012.
189. X. Ai, T. Kitazawa, A.-T. Do, M. Kusche-Gullberg, P. A. Labosky, and C. P. Emerson Jr., "SULF1 and SULF2 regulate heparan sulfate-mediated GDNF signaling for esophageal innervation, " Development, vol. 134, no. 18, pp. 3327-3338, 2007.
190. A. Langsdorf, A.-T. Do, M. Kusche-Gullberg, C. P. Emerson Jr., and X. Ai, "Sulfs are regulators of growth factor signaling for satellite cell differentiation and muscle regeneration, " Developmental Biology, vol. 311, no. 2, pp. 464-477, 2007.
191. I. Kalus, B. Salmen, C. Viebahn et al., "Differential involvement of the extracellular 6-O-endosulfatases Sulf1 and Sulf2 in brain development and neuronal and behavioural plasticity, " Journal of Cellular and Molecular Medicine, vol. 13, no. 11-12, pp. 4505-4521, 2009.
192. D. H. Lum, J. Tan, S. D. Rosen, and Z. Werb, "Gene trap disruption of the mouse heparan sulfate 6-O-endosulfatase gene, Sulf2, " Molecular and Cellular Biology, vol. 27, no. 2, pp. 678-688, 2007.
193. T. Uyama, H. Kitagawa, J.-I. Tamura, and K. Sugahara, "Molecular cloning and expression of human chondroitin Nacetylgalactosaminyltransferase. The key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate, " Journal of Biological Chemistry, vol. 277, no. 11, pp. 8841-8846, 2002.
194. M. Gotoh, T. Sato, T. Akashima et al., "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis, " Journal of Biological Chemistry, vol. 277, no. 41, pp. 38189-38196, 2002.
195. T. Uyama, H. Kitagawa, J. Tanaka, J.-I. Tamura, T. Ogawa, and K. Sugahara, "Molecular cloning and expression of a second chondroitin N-acetylgalactosaminyltransferase involved in the initiation and elongation of chondroitin/dermatan sulfate, " Journal of Biological Chemistry, vol. 278, no. 5, pp. 3072-3078, 2003.
196. T. Sato, M. Gotoh, K. Kiyohara et al., "Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate, " Journal of Biological Chemistry, vol. 278, no. 5, pp. 3063-3071, 2003.
197. J. D. Esko and L. Zhangt, "Influence of core protein sequence on glycosaminoglycan assembly, " Current Opinion in Structural Biology, vol. 6, no. 5, pp. 663-670, 1996.
198. K. Sugahara and H. Kitagawa, "Heparin and heparan sulfate biosynthesis, " IUBMB Life, vol. 54, no. 4, pp. 163-175, 2002.
199. T. Lind, F. Tufaro, C. McCormick, U. Lindahl, and K. Lidholt, "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate, " Journal of Biological Chemistry, vol. 273, no. 41, pp. 26265-26268, 1998.
200. H. Kitagawa, H. Shimakawa, and K. Sugahara, "The tumor suppressor EXT-like gene EXTL2 encodes an α1, 4-Nacetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region: the key enzyme for the chain initiation of heparan sulfate, " Journal of Biological Chemistry, vol. 274, no. 20, pp. 13933-13937, 1999.
201. B.-T. Kim, H. Kitagawa, J.-I. Tamura et al., "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1, 4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/heparin biosynthesis, " Proceedings of the National Academy of Sciences of the United States of America, vol. 98, no. 13, pp. 7176-7181, 2001.
202. H. Kitagawa, T. Uyama, and K. Sugahara, "Molecular cloning and expression of a human chondroitin synthase, " Journal of Biological Chemistry, vol. 276, no. 42, pp. 38721-38726, 2001.
203. H. Kitagawa, T. Izumikawa, T. Uyama, and K. Sugahara, "Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization, " Journal of Biological Chemistry, vol. 278, no. 26, pp. 23666-23671, 2003.
204. T. Izumikawa, T. Uyama, Y. Okuura, K. Sugahara, and H. Kitagawa, "Involvement of chondroitin sulfate synthase-3 (chondroitin synthase-2) in chondroitin polymerization through its interaction with chondroitin synthase-1 or chondroitinpolymerizing factor, " Biochemical Journal, vol. 403, no. 3, pp. 545-552, 2007.
205. T. Izumikawa, T. Koike, S. Shiozawa, K. Sugahara, J.-I. Tamura, and H. Kitagawa, "Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase familymembers, " Journal of Biological Chemistry, vol. 283, no. 17, pp. 11396-11406, 2008.
206. M. Gotoh, T. Yada, T. Sato et al., "Molecular cloning and characterization of a novel chondroitin sulfate glucuronyltransferase that transfers glucuronic acid to N-acetylgalactosamine, " Journal of Biological Chemistry, vol. 277, no. 41, pp. 38179-38188, 2002.
207. T. Yada, M. Gotoh, T. Sato et al., "Chondroitin sulfate synthase-2: molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities, " Journal of Biological Chemistry, vol. 278, no. 32, pp. 30235-30247, 2003.
208. T. Yada, T. Sato, H. Kaseyama et al., "Chondroitin sulfate synthase-3. Molecular cloning and characterization, " Journal of Biological Chemistry, vol. 278, no. 41, pp. 39711-39725, 2003.
209. M. Kobayashi, G. Sugumaran, J. Liu, N. W. Shworak, J. E. Silbert, and R. D. Rosenberg, "Molecular cloning and characterization of a human uronyl 2-sulfotransferase that sulfates iduronyl and glucuronyl residues in dermatan/chondroitin sulfate, " Journal of Biological Chemistry, vol. 274, no. 15, pp. 10474-10480, 1999.
210. S. Yamauchi, S. Mita, T. Matsubara et al., "Molecular cloning and expression of chondroitin 4-sulfotransferase, " Journal of Biological Chemistry, vol. 275, no. 12, pp. 8975-8981, 2000.
211. N. Hiraoka, H. Nakagawa, E. Ong, T. O. Akama, M. N. Fukuda, and M. Fukuda, "Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family, " Journal of Biological Chemistry, vol. 275, no. 26, pp. 20188-20196, 2000.
212. H.-G. Kang, M. R. Evers, G. Xia, J. U. Baenziger, and M. Schachner, "Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3: a novel member of the HNK-1 family of sulfotransferases, " Journal of Biological Chemistry, vol. 277, no. 38, pp. 34766-34772, 2002.
213. M. Fukuta, K. Uchimura, K. Nakashima et al., "Molecular cloning and expression of chick chondrocyte chondroitin 6-sulfotransferase, " Journal of Biological Chemistry, vol. 270, no. 31, pp. 18575-18580, 1995.
214. M. Fukuta, Y. Kobayashi, K. Uchimura, K. Kimata, and O. Habuchi, "Molecular cloning and expression of human chondroitin 6-sulfotransferase, " Biochimica et Biophysica Acta, vol. 1399, no. 1, pp. 57-61, 1998.
215. S. Ohtake, Y. Ito, M. Fukuta, and O. Habuchi, "Human N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase cDNA is related to human B cell recombination activating geneassociated gene, " Journal of Biological Chemistry, vol. 276, no. 47, pp. 43894-43900, 2001.
216. T. Izumikawa, Y. Okuura, T. Koike, N. Sakoda, and H. Kitagawa, "Chondroitin 4-O-sulfotransferase-1 regulates the chain length of chondroitin sulfate in co-operation with chondroitin N-acetylgalactosaminyltransferase-2, " Biochemical Journal, vol. 434, no. 2, pp. 321-331, 2011.
217. T. Izumikawa, T. Koike, and H. Kitagawa, "Chondroitin 4-Osulfotransferase-2 regulates the number of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1, " Biochemical Journal, vol. 441, no. 2, pp. 697-705, 2012.
218. A. Malmstrom, L. A. Fransson, M. Hook, and U. Lindahl, "Biosynthesis of dermatan sulfate-I. Formation of L iduronic acid residues, " Journal of Biological Chemistry, vol. 250, no. 9, pp. 3419-3425, 1975.
219. A. Malmstrom, "Biosynthesis of dermatan sulfate-II. Substrate specificity of the C-5 uronosyl epimerase, " Journal of Biological Chemistry, vol. 259, no. 1, pp. 161-165, 1984.
220. M. Maccarana, B. Olander, J. Malmstrom et al., "Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2, " Journal of Biological Chemistry, vol. 281, no. 17, pp. 11560-11568, 2006.
221. B. Pacheco, A. Malmstrom, and M. Maccarana, "Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate, " Journal of Biological Chemistry, vol. 284, no. 15, pp. 9788-9795, 2009.
222. M. R. Evers, G. Xia, H.-G. Kang, M. Schachner, and J. U. Baenziger, "Molecular cloning and characterization of a dermatanspecific N-acetylgalactosamine 4-O-sulfotransferase, " Journal of Biological Chemistry, vol. 276, no. 39, pp. 36344-36353, 2001.
223. T. Mikami, S. Mizumoto, N. Kago, H. Kitagawa, and K. Sugahara, "Specificities of three distinct human chondroitin/dermatanN-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis, " Journal of Biological Chemistry, vol. 278, no. 38, pp. 36115-36127, 2003.
224. C. McCormick, Y. Leduc, D. Martindale et al., "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate, "NatureGenetics, vol. 19, no. 2, pp. 158-161, 1998.
225. C. McCormick, G. Duncan, K. T. Goutsos, and F. Tufaro, "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate, " Proceedings of the National Academy of Sciences of the United States of America, vol. 97, no. 2, pp. 668-673, 2000.
226. C. Senay, T. Lind, K. Muguruma et al., "The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis, " EMBO Reports, vol. 1, no. 3, pp. 282-286, 2000.
227. B.-T. Kim, H. Kitagawa, J. Tanaka, J.-I. Tamura, and K. Sugahara, "In Vitro Heparan Sulfate Polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction, " Journal of Biological Chemistry, vol. 278, no. 43, pp. 41618-41623, 2003.
228. M. Busse and M. Kusche-Gullberg, "In vitro polymerization of heparan sulfate backbone by the EXT proteins, " Journal of Biological Chemistry, vol. 278, no. 42, pp. 41333-41337, 2003.
229. S. Mizumoto, H. Kitagawa, and K. Sugahara, "Biosynthesis of Heparin and Heparan sulfate, " in Chemistry and Biology of Heparin and Heparan Sulfate, H. G. Garg, R. J. Linhardt, and C. A. Hales, Eds., pp. 203-243, Elsevier, Oxford, UK, 2005.
230. Y. Hashimoto, A. Orellana, G. Gil, and C. B. Hirschberg, "Molecular cloning and expression of rat liverN-heparan sulfate sulfotransferase, " Journal of Biological Chemistry, vol. 267, no. 22, pp. 15744-15750, 1992.
231. I. Eriksson, D. Sandback, B. Ek, U. Lindahl, and L. Kjellen, "cDNA cloning and sequencing of mouse mastocytoma glucosaminyl N-deacetylase/N-sulfotransferase, an enzyme involved in the biosynthesis of heparin, " Journal of Biological Chemistry, vol. 269, no. 14, pp. 10438-10443, 1994.
232. J.-I. Aikawa and J. D. Esko, "Molecular cloning and expression of a third member of the heparan sulfate/heparin GlcNac N-deacetylase/N-sulfotransferase family, " Journal of Biological Chemistry, vol. 274, no. 5, pp. 2690-2695, 1999.
233. J.-I. Aikawa, K. Grobe, M. Tsujimoto, and J. D. Esko, "Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4, " Journal of Biological Chemistry, vol. 276, no. 8, pp. 5876-5882, 2001.
234. J.-P. Li, A. Hagner-McWhirter, L. Kjellen, J. Palgi, M. Jalkanen, and U. Lindahl, "Biosynthesis of heparin/heparan sulfate. cDNA cloning and expression of D-glucuronyl C5-epimerase from bovine lung, " Journal of Biological Chemistry, vol. 272, no. 44, pp. 28158-28163, 1997.
235. J.-P. Li, F. Gong, K. El Darwish, M. Jalkanen, and U. Lindahl, "Characterization of the D-glucuronyl C5-epimerase involved in the biosynthesis of heparin and heparan sulfate, " Journal of Biological Chemistry, vol. 276, no. 23, pp. 20069-20077, 2001.
236. B. E. Crawford, S. K. Olson, J. D. Esko, and M. A. S. Pinhal, "Cloning, Golgi localization, and enzyme activity of the fulllength heparin/heparan sulfate-glucuronic acid C5-epimerase, " Journal of Biological Chemistry, vol. 276, no. 24, pp. 21538-21543, 2001.
237. M. Kobayashi, H. Habuchi, M. Yoneda, O. Habuchi, and K. Kimata, "Molecular cloning and expression of Chinese hamster ovary cell heparan-sulfate 2-sulfotransferase, " Journal of Biological Chemistry, vol. 272, no. 21, pp. 13980-13985, 1997.
238. H. Habuchi, M. Kobayashi, and K. Kimata, "Molecular characterization and expression of heparan-sulfate 6-sulfotransferase. Complete cDNA cloning in human and partial cloning in Chinese hamster ovary cells, " Journal of Biological Chemistry, vol. 273, no. 15, pp. 9208-9213, 1998.
239. H. Habuchi, M. Tanaka, O. Habuchi et al., "The occurrence of three isoforms of heparan sulfate 6-O-sulfotransferase having different specificities for hexuronic acid adjacent to the targeted N-sulfoglucosamine, " Journal of Biological Chemistry, vol. 275, no. 4, pp. 2859-2868, 2000.
240. N. W. Shworak, J. Liu, L. M. S. Fritze et al., "Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase, " Journal of Biological Chemistry, vol. 272, no. 44, pp. 28008-28019, 1997.
241. N. W. Shworak, J. Liu, L. M. Petros et al., "Multiple isoforms of heparan sulfate D-glucosaminyl 3-O-sulfotransferase: isolation, characterization, and expression of human cDNAs and identification of distinct genomic loci, " Journal of Biological Chemistry, vol. 274, no. 8, pp. 5170-5184, 1999.
242. J. Liu, N. W. Shworak, P. Sinay et al., "Expression of heparan sulfate D-glucosaminyl 3-O-sulfotransferase isoforms reveals novel substrate specificities, " Journal of Biological Chemistry, vol. 274, no. 8, pp. 5185-5192, 1999.
243. G. Xia, J. Chen, V. Tiwari et al., "Heparansulfate 3-O-sulfotransferase isoform 5 generates both an antithrombin-binding site and an entry receptor for herpes simplex virus, type 1, " Journal of Biological Chemistry, vol. 277, no. 40, pp. 37912-37919, 2002.
244. D. Xu, V. Tiwari, G. Xia, C. Clement, D. Shukla, and J. Liu, "Characterization of heparan sulphate 3-O-sulphotransferase isoform 6 and its role in assisting the entry of herpes simplex virus type 1, " Biochemical Journal, vol. 385, no. 2, pp. 451-459, 2005.
245. G. K. Dhoot, M. K. Gustafsson, X. Ai, W. Sun, D. M. Standiford, and J. Emerson C. P., "Regulation ofWnt signaling and embryo patterning by an extracellular sulfatase, " Science, vol. 293, no. 5535, pp. 1663-1666, 2001.
246. T. Ohto, H. Uchida, H. Yamazaki, K. Keino-Masu, A. Matsui, and M. Masu, "Identification of a novel nonlysosomal sulphatase expressed in the floor plate, choroid plexus and cartilage, " Genes to Cells, vol. 7, no. 3, pp. 173-185, 2002.
247. M. Morimoto-Tomita, K. Uchimura, Z. Werb, S. Hemmerich, and S. D. Rosen, "Cloning and characterization of two extracellular heparin-degrading endosulfatases in mice and humans, " Journal of Biological Chemistry, vol. 277, no. 51, pp. 49175-49185, 2002.
248. E. J. Bradbury, L. D. F. Moon, R. J. Popat et al., "Chondroitinase ABC promotes functional recovery after spinal cord injury, " Nature, vol. 416, no. 6881, pp. 636-640, 2002.
249. F. Properzi, D. Carulli, R. A. Asher et al., "Chondroitin 6-sulphate synthesis is up-regulated in injured CNS, induced by injury-related cytokines and enhanced in axon-growth inhibitory glia, " European Journal of Neuroscience, vol. 21, no. 2, pp. 378-390, 2005.
250. D. Wang and J. Fawcett, "The perineuronal net and the control of CNS plasticity, " Cell and Tissue Research, vol. 349, no. 1, pp. 147-160, 2012.
251. A. von Holst, S. Sirko, and A. Faissner, "The unique 473HDchondroitinsulfate epitope is expressed by radial glia and involved in neural precursor cell proliferation, " Journal of Neuroscience, vol. 26, no. 15, pp. 4082-4094, 2006.
252. U. Lindahl, G. Backstrom, L. Thunberg, and I. G. Leder, "Evidence for a 3-O-sulfated D-glucosamine residue in the antithrombin-binding sequence of heparin, " Proceedings of the National Academy of Sciences of the United States of America, vol. 77, no. 11 I, pp. 6551-6555, 1980.
253. N. Sugaya, H. Habuchi, N. Nagai, S. Ashikari-Hada, and K. Kimata, "6-O-sulfation of heparan sulfate differentially regulates various fibroblast growth factor-dependent signalings in culture, " Journal of Biological Chemistry, vol. 283, no. 16, pp. 10366-10376, 2008.
254. I. T. Cook, T. S. Leyh, S. A. Kadlubar, and C. N. Falany, "Structural rearrangement of SULT2A1: effects on dehydroepiandrosterone and raloxifene sulfation, " Hormone Molecular Biology and Clinical Investigation, vol. 1, no. 2, pp. 81-87, 2010.
255. A. De Paepe and F. Malfait, "The Ehlers-Danlos syndrome, a disorder with many faces, " Clinical Genetics, vol. 82, no. 1, pp. 1-11, 2012.
256. P. Beighton, G. Gericke, K. Kozlowski, and L. Grobler, "The manifestations and natural history of spondylo-epimetaphyseal dysplasia with joint laxity, " Clinical Genetics, vol. 26, no. 4, pp. 308-317, 1984.
257. L. J. Larsen, E. R. Schottstaedt, and F. C. Bost, "Multiple congenital dislocations associated with characteristics facial abnormality, " TheJournal of Pediatrics, vol. 37, no. 4, pp. 574-581, 1950.
258. H. H. Steel and E. J. Kohl, "Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings, " Journal of Bone and Joint Surgery -Series A, vol. 54, no. 1, pp. 75-82, 1972.