Literature DB >> 8946167

Structure and sequence of the human sulphamidase gene.

L E Karageorgos1, X H Guo, L Blanch, B Weber, D S Anson, H S Scott, J J Hopwood.   

Abstract

Sanfilippo A syndrome (MPS-IIIA) is a mucopolysaccharide lysosomal storage disorder caused by a deficiency in the lysosomal enzyme, sulphamidase (EC 3.10.1.1), which is required for the degradation of heparan sulphate. A genomic clone containing the entire sulphamidase gene was isolated from a chromosome 17-specific gridded cosmid library. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The sulphamidase gene is split into 8 exons spanning approximately 11 kb.

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Year:  1996        PMID： 8946167     DOI： 10.1093/dnares/3.4.269

Source DB:  PubMed          Journal:  DNA Res        ISSN： 1340-2838            Impact factor:   4.458


  10 in total

1.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

2.  Recombinant human sulphamidase: expression, amplification, purification and characterization.

Authors:  J Bielicki; J J Hopwood; E L Melville; D S Anson
Journal:  Biochem J       Date:  1998-01-01       Impact factor: 3.857

3.  Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.

Authors:  B Weber; J J van de Kamp; W J Kleijer; X H Guo; L Blanch; O P van Diggelen; R Wevers; B J Poorthuis; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 4.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

5.  Glycosaminoglycan storage disorders: a review.

Authors:  Maria Francisca Coutinho; Lúcia Lacerda; Sandra Alves
Journal:  Biochem Res Int       Date:  2011-10-05

6.  A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

Authors:  Krastyu G Ugrinov; Stefan D Freed; Clayton L Thomas; Shaun W Lee
Journal:  PLoS One       Date:  2015-03-25       Impact factor: 3.240

7.  A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

Authors:  Xiaohua Li; Rui Xiao; Baiyu Chen; Guanglu Yang; Xiaomeng Zhang; Zhuo Fu; Junxian Fu; Mengli Zhuang; Yinglong Huang
Journal:  Medicine (Baltimore)       Date:  2018-12       Impact factor: 1.817

8.  Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.

Authors:  Rajech Sharkia; Muhammad Mahajnah; Abdelnaser Zalan; Chrysovalantis Sourlis; Peter Bauer; Ludger Schöls
Journal:  J Med Case Rep       Date:  2014-02-28

Review 9.  Sanfilippo syndrome: causes, consequences, and treatments.

Authors:  Anthony O Fedele
Journal:  Appl Clin Genet       Date:  2015-11-25

10.  Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.

Authors:  Himani Tanwar; D Thirumal Kumar; C George Priya Doss; Hatem Zayed
Journal:  Metab Brain Dis       Date:  2019-08-05       Impact factor: 3.584
  10 in total

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