Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. (Q51794664)

12 April 2018

title

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. (English)

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12 April 2018

author name string

Montaño AM

1

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12 April 2018

Sukegawa K

2

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Kato Z

3

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Carrozzo R

4

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Di Natale P

5

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Christensen E

6

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Orii KO

7

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Orii T

8

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Kondo N

9

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Tomatsu S

10

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publication date

17 September 2007

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Journal of Inherited Metabolic Disease

published in

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volume

30

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issue

5

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page(s)

758-767

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12 April 2018

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS10545-007-0702-Z

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency

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

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Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

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

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N-Acetylgalactosamine-6-Sulfate Sulfatase in Human Placenta: Purification and Characteristics1

1 reference

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Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease

1 reference

12 December 2020

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

1 reference

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Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

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Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency

1 reference

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Structure of a human lysosomal sulfatase

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12 December 2020

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

1 reference

12 December 2020

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype

1 reference

12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part II: Dental findings

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12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

1 reference

12 December 2020

A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA

1 reference

12 December 2020

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

1 reference

12 December 2020

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

1 reference

12 December 2020

Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

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International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

1 reference

12 December 2020

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

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12 December 2020

Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings

1 reference

12 December 2020

Heterogeneity of Morquio disease.

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12 December 2020

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

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12 December 2020

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

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Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

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Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)

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12 December 2020

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

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12 December 2020

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

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12 December 2020

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

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12 December 2020

Amino acid difference formula to help explain protein evolution

1 reference

12 December 2020

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

1 reference

12 December 2020

10.1007/S10545-007-0702-Z

Identifiers

DOI

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12 April 2018

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12 April 2018