Expression of five iduronate-2-sulfatase site-directed mutations (Q61041512)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Expression of five iduronate-2-sulfatase site-directed mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

main subject

Iduronate 2-sulfatase

1 reference

Guglielmo Rosario Domenico Villani

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Aurora Daniele

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

N Balzano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

P Di Natale

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 June 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

7 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

1501

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

71-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Sequence of the human iduronate 2-sulfatase (IDS) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Processing of iduronate 2-sulphatase in human fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

IDS transfer from overexpressing cells to IDS-deficient cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15-year period (1977–1991)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Heterogeneity of DNA and RNA in Hunter patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

59 Hexosaminidases A and B from human placenta

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Structure of a human lysosomal sulfatase

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Cloning and characterization of the cDNA for the murine iduronate sulfatase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Mutation analysis in 20 patients with Hunter disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900006-5

7 January 2021

10.1016/S0925-4439(00)00006-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10838181%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference