Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme

Dierks T, Schmidt B, Borissenko LV, Peng JH, Preusser A, Mariappan M, Figura von K (2003)
CELL 113(4): 435-444.

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C-alpha-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the endoplasmic reticulum. The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD), a lysosomal storage disorder. We purified the FGly generating enzyme (FGE) and identified its gene and nine mutations in seven MSD patients. In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation. The gene encoding FGE is highly conserved among pro- and eukaryotes and has a paralog of unknown function in vertebrates. FGE is localized in the endoplasmic reticulum and is predicted to have a tripartite domain structure.
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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. CELL. 2003;113(4):435-444.
Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J. H., Preusser, A., Mariappan, M., & Figura von, K. (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL, 113(4), 435-444. doi:10.1016/S0092-8674(03)00347-7
Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J. H., Preusser, A., Mariappan, M., and Figura von, K. (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL 113, 435-444.
Dierks, T., et al., 2003. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL, 113(4), p 435-444.
T. Dierks, et al., “Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme”, CELL, vol. 113, 2003, pp. 435-444.
Dierks, T., Schmidt, B., Borissenko, L.V., Peng, J.H., Preusser, A., Mariappan, M., Figura von, K.: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL. 113, 435-444 (2003).
Dierks, Thomas, Schmidt, B, Borissenko, LV, Peng, JH, Preusser, A, Mariappan, M, and Figura von, K. “Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme”. CELL 113.4 (2003): 435-444.
This data publication is cited in the following publications:
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130 Citations in Europe PMC

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Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O., Ital J Pediatr 40(), 2014
PMID: 25516103
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN., Can J Neurol Sci 41(5), 2014
PMID: 25373814
Metal-free bioconjugation reactions.
van Berkel SS, van Delft FL., Drug Discov Today Technol 10(1), 2013
PMID: 24050229
HpSumf1 is involved in the activation of sulfatases responsible for regulation of skeletogenesis during sea urchin development.
Sakuma T, Ohnishi K, Fujita K, Ochiai H, Sakamoto N, Yamamoto T., Dev. Genes Evol. 221(3), 2011
PMID: 21706447
Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
Zafeiriou DI, Vargiami E, Papadopoulou K, Dimitriou E, Mavridou I, Santamaria R, Canals I, Michelakakis H., Eur. J. Paediatr. Neurol. 12(3), 2008
PMID: 17881260

46 References

Data provided by Europe PubMed Central.

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W., Biochemistry 37(11), 1998
PMID: 9521684
Mammalian Sec61 is associated with Sec62 and Sec63.
Meyer HA, Grau H, Kraft R, Kostka S, Prehn S, Kalies KU, Hartmann E., J. Biol. Chem. 275(19), 2000
PMID: 10799540
Arylsulfatase from Klebsiella pneumoniae carries a formylglycine generated from a serine.
Miech C, Dierks T, Selmer T, von Figura K, Schmidt B., J. Biol. Chem. 273(9), 1998
PMID: 9478923
The mucopolysaccharidosis
Neufeld, 2001
[Combination of metachromatic leucodystrophy and mucopolysaccharidosis: a disease entity (mucosulfatidosis)]
Rampini S, Isler W, Baerlocher K, Bischoff A, Ulrich J, Pluss HJ., Helv Paediatr Acta 25(5), 1970
PMID: 4250178
EMBOSS: the European Molecular Biology Open Software Suite.
Rice P, Longden I, Bleasby A., Trends Genet. 16(6), 2000
PMID: 10827456
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
Schmidt B, Selmer T, Ingendoh A, von Figura K., Cell 82(2), 1995
PMID: 7628016
Mass spectrometric sequencing of proteins silver-stained polyacrylamide gels.
Shevchenko A, Wilm M, Vorm O, Mann M., Anal. Chem. 68(5), 1996
PMID: 8779443
Pfam: multiple sequence alignments and HMM-profiles of protein domains.
Sonnhammer EL, Eddy SR, Birney E, Bateman A, Durbin R., Nucleic Acids Res. 26(1), 1998
PMID: 9399864
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Steckel F, Hasilik A, von Figura K., Eur. J. Biochem. 151(1), 1985
PMID: 2863138
The iron sulfur protein AtsB is required for posttranslational formation of formylglycine in the Klebsiella sulfatase.
Szameit C, Miech C, Balleininger M, Schmidt B, von Figura K, Dierks T., J. Biol. Chem. 274(22), 1999
PMID: 10336424
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig
Thiel, Biochem. J. 376(), 2002
Multiple sulphatase deficiency with early onset.
Vamos E, Liebaers I, Bousard N, Libert J, Perlmutter N., J. Inherit. Metab. Dis. 4(2), 1981
PMID: 6115093
A new method for predicting signal sequence cleavage sites.
von Heijne G., Nucleic Acids Res. 14(11), 1986
PMID: 3714490
Database resources of the National Center for Biotechnology Information
Wheeler, Nucleic Acids Res. 20(), 2002
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
Yutaka T, Okada S, Kato T, Inui K, Yabuuchi H., Clin. Genet. 20(4), 1981
PMID: 7333023

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