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{{Infobox_gene}}
{{PBB_Controls
'''N-sulphoglucosamine sulphohydrolase''' is an [[enzyme]] that in humans is encoded by the ''SGSH'' [[gene]].<ref name="pmid7493035">{{cite journal | vauthors = Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ | title = Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome | journal = Nature Genetics | volume = 11 | issue = 4 | pages = 465–7 | date = Dec 1995 | pmid = 7493035 | pmc =  | doi = 10.1038/ng1295-465 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = N-sulfoglucosamine sulfohydrolase (sulfamidase)
| HGNCid = 10818
| Symbol = SGSH
| AltSymbols =; HSS; MPS3A; SFMD
| OMIM = 605270
| ECnumber = 
| Homologene = 167
| MGIid = 1350341
| GeneAtlas_image1 = PBB_GE_SGSH_35626_at_tn.png
| GeneAtlas_image2 = PBB_GE_SGSH_204293_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008484 |text = sulfuric ester hydrolase activity}} {{GNF_GO|id=GO:0016250 |text = N-sulfoglucosamine sulfohydrolase activity}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}}
| Process = {{GNF_GO|id=GO:0006029 |text = proteoglycan metabolic process}} {{GNF_GO|id=GO:0008152 |text = metabolic process}} {{GNF_GO|id=GO:0030203 |text = glycosaminoglycan metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6448
    | Hs_Ensembl = ENSG00000181523
    | Hs_RefseqProtein = NP_000190
    | Hs_RefseqmRNA = NM_000199
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 75798846
    | Hs_GenLoc_end = 75808716
    | Hs_Uniprot = P51688
    | Mm_EntrezGene = 27029
    | Mm_Ensembl = ENSMUSG00000005043
    | Mm_RefseqmRNA = NM_018822
    | Mm_RefseqProtein = NP_061292
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 119159581
    | Mm_GenLoc_end = 119171628
    | Mm_Uniprot = 
  }}
}}
'''N-sulfoglucosamine sulfohydrolase (sulfamidase)''', also known as '''SGSH''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding [[N-sulfoglucosamine sulfohydrolase]] (SGSH; MIM 605270). The [[Sanfilippo syndrome]], or mucopolysaccharidosis III, is a [[lysosomal storage disease]] due to impaired degradation of [[heparan sulfate]].<ref>{{cite journal | vauthors = Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P | title = Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects | journal = Biochimica et Biophysica Acta | volume = 1501 | issue = 1 | pages = 1–11 | date = Apr 2000 | pmid = 10727844 | doi = 10.1016/s0925-4439(99)00118-0 }}</ref> MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported<ref>{{cite journal | vauthors = van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA | title = Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) | journal = Clinical Genetics | volume = 20 | issue = 2 | pages = 152–60 | date = Aug 1981 | pmid = 6796310 | doi = 10.1111/j.1399-0004.1981.tb01821.x }}</ref> to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al, 2000 [PubMed 10727844]). MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981 [PubMed 6796310]) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6448| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Yogalingam G, Hopwood JJ | title = Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications | journal = Human Mutation | volume = 18 | issue = 4 | pages = 264–81 | date = Oct 2001 | pmid = 11668611 | doi = 10.1002/humu.1189 }}
| citations =
* {{cite journal | vauthors = van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA | title = Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C) | journal = Clinical Genetics | volume = 20 | issue = 2 | pages = 152–60 | date = Aug 1981 | pmid = 6796310 | doi = 10.1111/j.1399-0004.1981.tb01821.x }}
*{{cite journal | author=Yogalingam G, Hopwood JJ |title=Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 264-81 |year= 2002 |pmid= 11668611 |doi= 10.1002/humu.1189 }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA |title=Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). |journal=Clin. Genet. |volume=20 |issue= 2 |pages= 152-60 |year= 1982 |pmid= 6796310 |doi= }}
* {{cite journal | vauthors = Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ | title = Structure and sequence of the human sulphamidase gene | journal = DNA Research | volume = 3 | issue = 4 | pages = 269–71 | date = Aug 1996 | pmid = 8946167 | doi = 10.1093/dnares/3.4.269 }}
*{{cite journal | author=Scott HS, Blanch L, Guo XH, ''et al.'' |title=Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. |journal=Nat. Genet. |volume=11 |issue= 4 |pages= 465-7 |year= 1996 |pmid= 7493035 |doi= 10.1038/ng1295-465 }}
* {{cite journal | vauthors = Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ | title = Molecular defects in Sanfilippo syndrome type A | journal = Human Molecular Genetics | volume = 6 | issue = 5 | pages = 787–91 | date = May 1997 | pmid = 9158154 | doi = 10.1093/hmg/6.5.787 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ | title = Novel mutations in Sanfilippo A syndrome: implications for enzyme function | journal = Human Molecular Genetics | volume = 6 | issue = 9 | pages = 1573–9 | date = Sep 1997 | pmid = 9285796 | doi = 10.1093/hmg/6.9.1573 }}
*{{cite journal | author=Karageorgos LE, Guo XH, Blanch L, ''et al.'' |title=Structure and sequence of the human sulphamidase gene. |journal=DNA Res. |volume=3 |issue= 4 |pages= 269-71 |year= 1997 |pmid= 8946167 |doi= }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Blanch L, Weber B, Guo XH, ''et al.'' |title=Molecular defects in Sanfilippo syndrome type A. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 787-91 |year= 1997 |pmid= 9158154 |doi= }}
* {{cite journal | vauthors = Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A | title = Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A) | journal = Human Mutation | volume = 10 | issue = 6 | pages = 479–85 | year = 1998 | pmid = 9401012 | doi = 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X }}
*{{cite journal | author=Weber B, Guo XH, Wraith JE, ''et al.'' |title=Novel mutations in Sanfilippo A syndrome: implications for enzyme function. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1573-9 |year= 1998 |pmid= 9285796 |doi= }}
* {{cite journal | vauthors = Bielicki J, Hopwood JJ, Melville EL, Anson DS | title = Recombinant human sulphamidase: expression, amplification, purification and characterization | journal = The Biochemical Journal | volume = 329 | issue = Pt 1 | pages = 145–50 | date = Jan 1998 | pmid = 9405287 | pmc = 1219025 | doi = 10.1042/bj3290145}}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = Di Natale P, Balzano N, Esposito S, Villani GR | title = Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations | journal = Human Mutation | volume = 11 | issue = 4 | pages = 313–20 | year = 1998 | pmid = 9554748 | doi = 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P }}
*{{cite journal  | author=Bunge S, Ince H, Steglich C, ''et al.'' |title=Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). |journal=Hum. Mutat. |volume=10 |issue= 6 |pages= 479-85 |year= 1998 |pmid= 9401012 |doi= 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X }}
* {{cite journal | vauthors = Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ | title = Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands | journal = Journal of Inherited Metabolic Disease | volume = 21 | issue = 4 | pages = 416–22 | date = Jun 1998 | pmid = 9700599 | doi = 10.1023/A:1005362826552 }}
*{{cite journal | author=Bielicki J, Hopwood JJ, Melville EL, Anson DS |title=Recombinant human sulphamidase: expression, amplification, purification and characterization. |journal=Biochem. J. |volume=329 ( Pt 1) |issue=  |pages= 145-50 |year= 1998 |pmid= 9405287 |doi= }}
* {{cite journal | vauthors = Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D | title = Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients | journal = Human Mutation | volume = 12 | issue = 4 | pages = 274–9 | year = 1998 | pmid = 9744479 | doi = 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F }}
*{{cite journal  | author=Di Natale P, Balzano N, Esposito S, Villani GR |title=Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. |journal=Hum. Mutat. |volume=11 |issue= 4 |pages= 313-20 |year= 1998 |pmid= 9554748 |doi= 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P }}
* {{cite journal | vauthors = Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R | title = Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele | journal = Prenatal Diagnosis | volume = 19 | issue = 10 | pages = 993–4 | date = Oct 1999 | pmid = 10521831 | doi = 10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L }}
*{{cite journal | author=Weber B, van de Kamp JJ, Kleijer WJ, ''et al.'' |title=Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. |journal=J. Inherit. Metab. Dis. |volume=21 |issue= 4 |pages= 416-22 |year= 1998 |pmid= 9700599 |doi= }}
* {{cite journal | vauthors = Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P | title = Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects | journal = Biochimica et Biophysica Acta | volume = 1501 | issue = 1 | pages = 1–11 | date = Apr 2000 | pmid = 10727844 | doi = 10.1016/s0925-4439(99)00118-0 }}
*{{cite journal  | author=Montfort M, Vilageliu L, Garcia-Giralt N, ''et al.'' |title=Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. |journal=Hum. Mutat. |volume=12 |issue= 4 |pages= 274-9 |year= 1998 |pmid= 9744479 |doi= 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F }}
* {{cite journal | vauthors = Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L | title = Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation | journal = American Journal of Medical Genetics | volume = 100 | issue = 3 | pages = 223–8 | date = May 2001 | pmid = 11343308 | doi = 10.1002/ajmg.1248 }}
*{{cite journal | author=Di Natale P, Villani GR, Esposito S, ''et al.'' |title=Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele. |journal=Prenat. Diagn. |volume=19 |issue= 10 |pages= 993-4 |year= 1999 |pmid= 10521831 |doi= }}
* {{cite journal | vauthors = Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ | title = Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B | journal = Human Mutation | volume = 19 | issue = 2 | pages = 184–5 | date = Feb 2002 | pmid = 11793481 | doi = 10.1002/humu.9009 }}
*{{cite journal | author=Esposito S, Balzano N, Daniele A, ''et al.'' |title=Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. |journal=Biochim. Biophys. Acta |volume=1501 |issue= 1 |pages= 1-11 |year= 2000 |pmid= 10727844 |doi= }}
* {{cite journal | vauthors = Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A | title = Analysis of Sanfilippo A gene mutations in a large pedigree | journal = Clinical Genetics | volume = 63 | issue = 4 | pages = 314–8 | date = Apr 2003 | pmid = 12702166 | doi = 10.1034/j.1399-0004.2003.00053.x }}
*{{cite journal | author=Chabás A, Montfort M, Martínez-Campos M, ''et al.'' |title=Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. |journal=Am. J. Med. Genet. |volume=100 |issue= 3 |pages= 223-8 |year= 2001 |pmid= 11343308 |doi= }}
*{{cite journal | author=Emre S, Terzioglu M, Tokatli A, ''et al.'' |title=Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. |journal=Hum. Mutat. |volume=19 |issue= 2 |pages= 184-5 |year= 2002 |pmid= 11793481 |doi= 10.1002/humu.9009 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Di Natale P, Villani GR, Di Domenico C, ''et al.'' |title=Analysis of Sanfilippo A gene mutations in a large pedigree. |journal=Clin. Genet. |volume=63 |issue= 4 |pages= 314-8 |year= 2004 |pmid= 12702166 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{Glycosaminoglycan catabolism}}
{{Glycosaminoglycan catabolism}}
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{{gene-17-stub}}

Latest revision as of 06:15, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene.[1][2]

Clinical significance

A number sign (#) is used with this entry because the phenotype is caused by mutation in the gene encoding N-sulfoglucosamine sulfohydrolase (SGSH; MIM 605270). The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.[3] MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; MIM 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; MIM 252930); and N-acetylglucosamine 6-sulfatase (type D; MIM 252940). The Sanfilippo syndrome is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported[4] to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.[2]

References

  1. ↑ Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (Dec 1995). "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome". Nature Genetics. 11 (4): 465–7. doi:10.1038/ng1295-465. PMID 7493035.
  2. ↑ 2.0 2.1 "Entrez Gene: SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase)".
  3. ↑ Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P (Apr 2000). "Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects". Biochimica et Biophysica Acta. 1501 (1): 1–11. doi:10.1016/s0925-4439(99)00118-0. PMID 10727844.
  4. ↑ van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310.

Further reading

  • Yogalingam G, Hopwood JJ (Oct 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611.
  • van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (Aug 1981). "Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)". Clinical Genetics. 20 (2): 152–60. doi:10.1111/j.1399-0004.1981.tb01821.x. PMID 6796310.
  • Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Karageorgos LE, Guo XH, Blanch L, Weber B, Anson DS, Scott HS, Hopwood JJ (Aug 1996). "Structure and sequence of the human sulphamidase gene". DNA Research. 3 (4): 269–71. doi:10.1093/dnares/3.4.269. PMID 8946167.
  • Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ (May 1997). "Molecular defects in Sanfilippo syndrome type A". Human Molecular Genetics. 6 (5): 787–91. doi:10.1093/hmg/6.5.787. PMID 9158154.
  • Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ (Sep 1997). "Novel mutations in Sanfilippo A syndrome: implications for enzyme function". Human Molecular Genetics. 6 (9): 1573–9. doi:10.1093/hmg/6.9.1573. PMID 9285796.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, van Diggelen OP, Weber B, Hopwood JJ, Gal A (1998). "Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)". Human Mutation. 10 (6): 479–85. doi:10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X. PMID 9401012.
  • Bielicki J, Hopwood JJ, Melville EL, Anson DS (Jan 1998). "Recombinant human sulphamidase: expression, amplification, purification and characterization". The Biochemical Journal. 329 (Pt 1): 145–50. doi:10.1042/bj3290145. PMC 1219025. PMID 9405287.
  • Di Natale P, Balzano N, Esposito S, Villani GR (1998). "Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations". Human Mutation. 11 (4): 313–20. doi:10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. PMID 9554748.
  • Weber B, van de Kamp JJ, Kleijer WJ, Guo XH, Blanch L, van Diggelen OP, Wevers R, Poorthuis BJ, Hopwood JJ (Jun 1998). "Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands". Journal of Inherited Metabolic Disease. 21 (4): 416–22. doi:10.1023/A:1005362826552. PMID 9700599.
  • Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D (1998). "Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients". Human Mutation. 12 (4): 274–9. doi:10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F. PMID 9744479.
  • Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R (Oct 1999). "Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele". Prenatal Diagnosis. 19 (10): 993–4. doi:10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L. PMID 10521831.
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