[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MSD VAL-279; ARG-336; GLN-349 AND TRP-349, AND VARIANT ASN-63.
DOI=10.1016/S0092-8674(03)00347-7; PubMed=12757705 [NCBI, ExPASy, EBI, Israel, Japan]
Dierks T.,
Schmidt B.,
Borissenko L.V.,
Peng J.,
Preusser A.,
Mariappan M.,
von Figura K.;
"Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme.";
Cell 113:435-444(2003).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MSD PRO-155; TYR-218; ARG-336; CYS-345; PRO-348; GLN-349 AND TRP-349, AND FUNCTION.
DOI=10.1016/S0092-8674(03)00348-9; PubMed=12757706 [NCBI, ExPASy, EBI, Israel, Japan]
Cosma M.P.,
Pepe S.,
Annunziata I.,
Newbold R.F.,
Grompe M.,
Parenti G.,
Ballabio A.;
"The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.";
Cell 113:445-456(2003).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ASN-63.
DOI=10.1101/gr.1293003; PubMed=12975309 [NCBI, ExPASy, EBI, Israel, Japan]
Clark H.F.,
Gurney A.L.,
Abaya E.,
Baker K.,
Baldwin D.T.,
Brush J.,
Chen J.,
Chow B.,
Chui C.,
Crowley C.,
Currell B.,
Deuel B.,
Dowd P.,
Eaton D.,
Foster J.S.,
Grimaldi C.,
Gu Q.,
Hass P.E.,
Heldens S., ![]()
Huang A.,
Kim H.S.,
Klimowski L.,
Jin Y.,
Johnson S.,
Lee J.,
Lewis L.,
Liao D.,
Mark M.R.,
Robbie E.,
Sanchez C.,
Schoenfeld J.,
Seshagiri S.,
Simmons L.,
Singh J.,
Smith V.,
Stinson J.,
Vagts A.,
Vandlen R.L.,
Watanabe C.,
Wieand D.,
Woods K.,
Xie M.-H.,
Yansura D.G.,
Yi S.,
Yu G.,
Yuan J.,
Zhang M.,
Zhang Z.,
Goddard A.D.,
Wood W.I.,
Godowski P.J.,
Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Gastric mucosa;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta;
Ota T.,
Nishikawa T.,
Suzuki Y.,
Kawai-Hio Y.,
Hayashi K.,
Ishii S.,
Saito K.,
Yamamoto J.,
Wakamatsu A.,
Nagai T.,
Nakamura Y.,
Nagahari K.,
Sugano S.,
Isogai T.;
"HRI human cDNA sequencing project.";
Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Colon, and Prostate;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[7]
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PROTEIN SEQUENCE OF N-TERMINUS, FUNCTION, MASS SPECTROMETRY, CALCIUM-BINDING, GLYCOSYLATION AT ASN-141, SUBCELLULAR LOCATION, AND DISULFIDE BONDS.
DOI=10.1074/jbc.M413383200; PubMed=15657036 [NCBI, ExPASy, EBI, Israel, Japan]
Preusser-Kunze A.,
Mariappan M.,
Schmidt B.,
Gande S.L.,
Mutenda K.,
Wenzel D.,
von Figura K.,
Dierks T.;
"Molecular characterization of the human Calpha-formylglycine-generating enzyme.";
J. Biol. Chem. 280:14900-14910(2005).
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[8]
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PARTIAL PROTEIN SEQUENCE, X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 73-374 IN COMPLEX WITH CALCIUM, GLYCOSYLATION AT ASN-141, MUTAGENESIS OF SER-333; CYS-336; HIS-337; TYR-340 AND CYS-341, AND DISULFIDE BONDS.
DOI=10.1016/j.cell.2005.03.001; PubMed=15907468 [NCBI, ExPASy, EBI, Israel, Japan]
Dierks T.,
Dickmanns A.,
Preusser-Kunze A.,
Schmidt B.,
Mariappan M.,
von Figura K.,
Ficner R.,
Rudolph M.G.;
"Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.";
Cell 121:541-552(2005).
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[9]
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X-RAY CRYSTALLOGRAPHY (1.48 ANGSTROMS) OF MUTANTS SER-336 AND SER-341 IN COMPLEX WITH SULFATASE PEPTIDE.
DOI=10.1073/pnas.0507592102; PubMed=16368756 [NCBI, ExPASy, EBI, Israel, Japan]
Roeser D.,
Preusser-Kunze A.,
Schmidt B.,
Gasow K.,
Wittmann J.G.,
Dierks T.,
von Figura K.,
Rudolph M.G.;
"A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.";
Proc. Natl. Acad. Sci. U.S.A. 103:81-86(2006).
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[10]
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VARIANTS MSD PHE-20; PRO-177; TRP-224; ILE-259 AND LEU-266, AND CHARACTERIZATION OF VARIANTS MSD PHE-20; PRO-155; PRO-177; TYR-218; TRP-224; ILE-259; LEU-266; VAL-279; ARG-336; CYS-345; PRO-348; TRP-349 AND GLN-349.
DOI=10.1002/humu.20040; PubMed=15146462 [NCBI, ExPASy, EBI, Israel, Japan]
Cosma M.P.,
Pepe S.,
Parenti G.,
Settembre C.,
Annunziata I.,
Wade-Martins R.,
Domenico C.D.,
Natale P.D.,
Mankad A.,
Cox B.,
Uziel G.,
Mancini G.M.,
Zammarchi E.,
Donati M.A.,
Kleijer W.J.,
Filocamo M.,
Carrozzo R.,
Carella M.,
Ballabio A.;
"Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.";
Hum. Mutat. 23:576-581(2004).
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[11]
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CHARACTERIZATION OF VARIANTS MSD PRO-177; SER-179; VAL-279 AND TRP-349.
DOI=10.1002/humu.9515; PubMed=18157819 [NCBI, ExPASy, EBI, Israel, Japan]
Schlotawa L.,
Steinfeld R.,
von Figura K.,
Dierks T.,
Gaertner J.;
"Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.";
Hum. Mutat. 29:205-205(2008).
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