[1] Parenti G, Meroni G, Ballabio A.The sulfatase gene family[J]. Curr Opin Genet Dev, 1997, 7(3):386-391. [2] Tomatsu S, Fukuda S, Yamagishi A, et al.Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency[J]. Am J Hum Genet, 1996, 58(5):950-962. [3] Muschol N, Storch S, Ballhausen D, et al.Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A[J]. Hum Mutat, 2004, 23(6):559-566. [4] Franco B, Meroni G, Parenti G, et al.A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy[J]. Cell, 1995, 81(1):15-25. [5] Filocamo M, Bonuccelli G, Corsolini F, et al.Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene[J]. Hum Mutat, 2001, 18(2):164-165. [6] Ferrante P, Messali S, Ballabio A, et al.Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata[J]. Gene, 2004, 336(2):155-161. [7] Cosma MP, Pepe S, Annunziata I, et al.The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases[J]. Cell, 2003, 113(4):445-456. [8] Schmidt B, Selmer T, Ingendoh A, et al.A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency[J]. Cell, 1995, 82(2):271-278. [9] Dierks T, Schmidt B, Borissenko LV, et al, Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme[J]. Cell, 2003,113(4):435-444. [10] Cosma MP, Pepe S, Parenti G, et al.Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency[J]. Hum Mutat, 2004, 23(6):576-581. [11] Mariappan M, Preusser-Kunze A, Balleininger M, et al., Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme[J]. J Biol Chem, 2005, 280(15): 15173-15179. [12] Dierks T, Dickmanns A, Preusser-Kunze A, et al.Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme[J]. Cell, 2005, 121(4):541-552. [13] Zito E, Fraldi A, Pepe S, et al.Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2[J]. EMBO Rep, 2005, 6(7):655-660. [14] 匡昉哲, 庄华, 周涛, 等, Sumf2 条件性基因剔除小鼠模型的建立及初步表型分析[J]. 实验动物与比较医学, 2013, 33(6):425-432. [15] Settembre C, Annunziata I, Spampanato C, et al.Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency[J]. Proc Natl Acad Sci USA, 2007, 104(11):4506-4511. [16] Secky L, Svoboda M, Klameth L, et al.The sulfatase pathway for estrogen formation: targets for the treatment and diagnosis of hormone-associated tumors[J]. J Drug Deliv, 2013, 2013:957605. [17] Nawroth R, van Zante A, Cervantes S, et al. Extracellular sulfatases, elements of the Wnt signaling pathway, positively regulate growth and tumorigenicity of human pancreatic cancer cells[J]. PLoS One, 2007, 2(4):e392. |