Sequence of SPHM_HUMAN

N-sulfoglucosamine sulfohydrolase

P51688

502

56695

1257034

Scott H.S.,Blanch L.,Guo X.-H.,Freeman C.,Orsborn A.,Baker E.,Sutherland G.R.,Morris C.P.,Hopwood J.J.

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

Nat. Genet.

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465-467

1995

1257036

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

1257037

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

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2121-2127

2004

1257038

Zhang H.,Li X.-J.,Martin D.B.,Aebersold R.

Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

Nat. Biotechnol.

21

660-666

2003

1257039

Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

J. Proteome Res.

8

651-661

2009

1257040

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

96

253-262

2014

1257041

Sidhu N.S.,Schreiber K.,Propper K.,Becker S.,Uson I.,Sheldrick G.M.,Gartner J.,Kratzner R.,Steinfeld R.

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Acta Crystallogr. D

70

1321-1335

2014

1257042

Blanch L.,Weber B.,Guo X.-H.,Scott H.S.,Hopwood J.J.

Molecular defects in Sanfilippo syndrome type A.

Hum. Mol. Genet.

6

787-791

1997

1257043

Weber B.,Guo X.-H.,Wraith J.E.,Cooper A.,Kleijer W.J.,Bunge S.,Hopwood J.J.

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Hum. Mol. Genet.

6

1573-1579

1997

1257044

Bunge S.,Ince H.,Steglich C.,Kleijer W.J.,Beck M.,Zaremba J.,van Diggelen O.P.,Weber B.,Hopwood J.J.,Gal A.

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

Hum. Mutat.

10

479-485

1997

1257045

di Natale P.,Balzano N.,Esposito S.,Villani G.R.D.

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Hum. Mutat.

11

313-320

1998

1257046

Montfort M.,Vilageliu L.,Garcia-Giralt N.,Guidi S.,Coll M.J.,Chabas A.,Grinberg D.

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Hum. Mutat.

12

274-279

1998

1257047

Beesley C.E.,Young E.P.,Vellodi A.,Winchester B.G.

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

J. Med. Genet.

37

704-707

2000

1257048

Lee-Chen G.J.,Lin S.P.,Ko M.H.,Chuang C.K.,Chen C.P.,Lee H.H.,Cheng S.C.,Shen C.H.,Tseng K.L.,Li C.L.

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

Clin. Genet.

61

192-197

2002

1257049

Emre S.,Terzioglu M.,Tokatli A.,Coskun T.,Ozalp I.,Weber B.,Hopwood J.J.

Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B.

Hum. Mutat.

19

184-185

2002

1257050

Di Natale P.,Villani G.R.D.,Di Domenico C.,Daniele A.,Dionisi Vici C.,Bartuli A.

Analysis of Sanfilippo A gene mutations in a large pedigree.

Clin. Genet.

63

314-318

2003

1257051

Muschol N.,Storch S.,Ballhausen D.,Beesley C.,Westermann J.-C.,Gal A.,Ullrich K.,Hopwood J.J.,Winchester B.,Braulke T.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Hum. Mutat.

23

559-566

2004

1257052

Gabrielli O.,Coppa G.V.,Bruni S.,Villani G.R.D.,Pontarelli G.,Di Natale P.

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Am. J. Med. Genet. A

133

85-89

2005

1257053

Bekri S.,Armana G.,De Ricaud D.,Osenda M.,Maire I.,Van Obberghen E.,Froissart R.

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

J. Inherit. Metab. Dis.

28

601-602

2005

1257054

Di Natale P.,Pontarelli G.,Villani G.R.D.,Di Domenico C.

Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.

Hum. Genet.

119

679-679

2006

1257055

Fiorentino F.,Biricik A.,Nuccitelli A.,De Palma R.,Kahraman S.,Iacobelli M.,Trengia V.,Caserta D.,Bonu M.A.,Borini A.,Baldi M.

Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.

Hum. Reprod.

21

670-684

2006

1257056

Meyer A.,Kossow K.,Gal A.,Steglich C.,Muehlhausen C.,Ullrich K.,Braulke T.,Muschol N.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Hum. Mutat.

29

770-770

2008

1257057

Muschol N.,Pohl S.,Meyer A.,Gal A.,Ullrich K.,Braulke T.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Am. J. Med. Genet. A

155A

1634-1639

2011

1257058

Ouesleti S.,Coutinho M.F.,Ribeiro I.,Miled A.,Mosbahi D.S.,Alves S.

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

World J. Pediatr.

13

374-380

2017