SULFATASES AND HUMAN DISEASE
Tóm tắt
▪ Abstract Sulfatases are a highly conserved family of proteins that cleave sulfate esters from a wide range of substrates. The importance of sulfatases in human metabolism is underscored by the presence of at least eight human monogenic diseases caused by the deficiency of individual sulfatases. Sulfatase activity requires a unique posttranslational modification, which is impaired in patients with multiple sulfatase deficiency (MSD) due to a mutation of the sulfatase modifying factor 1 (SUMF1). Here we review current knowledge and future perspectives on the evolution of the sulfatase gene family, on the role of these enzymes in human metabolism, and on new developments in the therapy of sulfatase deficiencies.
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Tài liệu tham khảo
Ballabio A, Shapiro LJ. 2001. Steroid sulfatase deficiency and X-linked ichthyosis. See Scriver 1995, pp.4241–62
Coppa GV, 1995, Pediatr. Med. Chir., 17, 227
Dubois G, 1977, Am. J. Hum. Genet., 29, 191
Fedde K, 1984, Am. J. Hum. Genet, 36, 623
Haskins ME, 1982, Progr. Clin. Biol. Res., 94, 177
Hopwood JJ, 2001, The Metabolic and Molecular Basis of Inherited Disease, 3725
Kolodny EH, Fluharty AL. 1995. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. See Scriver 1995, pp.2693–741
Ledbetter D, Ballabio A. 1995. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. See Scriver 1995, pp.811–42
Neufeld EF, 2001, The Metabolic and Molecular Basis of Inherited Disease, 3421
Sandhoff K, Harzer K, Fürst W. 1995. Sphingolipid activator proteins. See Scriver 1995, pp.2427–41
Scriver CR, 1995, The Metabolic and Molecular Basis of Inherited Disease
Stevens RL, 1981, Am. J. Hum. Genet., 33, 900
Suzuki T, 2003, Cancer Res., 63, 2762
Von Figura K, 2001, The Metabolic and Molecular Basis of Inherited Disease, 3695