(Q40210854)

English

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis

scientific article published on 7 November 2006

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

1 reference

based on heuristic

inferred from title

author name string

Sukegawa-Hayasaka K

1

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Kato Z

2

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Nakamura H

3

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Tomatsu S

4

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Fukao T

5

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Kuwata K

6

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Orii T

7

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Kondo N

8

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

publication date

7 November 2006

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

29

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

755-761

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Processing of iduronate 2-sulphatase in human fibroblasts

1 reference

https://api.crossref.org/works/10.1007%2FS10545-006-0440-7

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-006-0440-7

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in 20 patients with Hunter disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of a human lysosomal sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of five iduronate-2-sulfatase site-directed mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determinants of protein side-chain packing

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural models of ribonuclease H domains in reverse transcriptases from retroviruses

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MPS II in females: molecular basis of two different cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17091340

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-006-0440-7

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 September 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q40210854&oldid=2203500462"