Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A (Q28115935)

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28 December 2019

title

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

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146460%20AND%20SRC:MED&resulttype=core&format=json

N-sulfoglucosamine sulfohydrolase

28 December 2019

main subject

1 reference

heparan sulfate proteoglycan catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

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28 December 2019

8

John J Hopwood

1 reference

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28 December 2019

author name string

Nicole Muschol

1

2 references

4 January 2017

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28 December 2019

Stephan Storch

2

2 references

4 January 2017

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28 December 2019

Clare Beesley

4

2 references

4 January 2017

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28 December 2019

Jan-Christoph Westermann

5

2 references

4 January 2017

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28 December 2019

Andreas Gal

6

2 references

4 January 2017

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28 December 2019

Kurt Ullrich

7

2 references

4 January 2017

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28 December 2019

Bryan Winchester

9

2 references

4 January 2017

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28 December 2019

Thomas Braulke

10

2 references

4 January 2017

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28 December 2019

publication date

1 June 2004

2 references

4 January 2017

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28 December 2019

2 references

4 January 2017

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28 December 2019

volume

23

2 references

4 January 2017

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28 December 2019

issue

6

2 references

4 January 2017

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28 December 2019

page(s)

559-566

1 reference

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Recombinant human sulphamidase: expression, amplification, purification and characterization

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

Management of mucopolysaccharidosis type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

The sulfatase gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20037

1 reference

7 January 2021

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20037

7 January 2021

Identifiers

DOI

10.1002/HUMU.20037

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146460%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

2 references

4 January 2017