Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase (Q34415472)

2 August 2017

1 reference

title

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase (English)

1 reference

2 August 2017

Litjens T

1

1 reference

PubMed ID

11668612

2 August 2017

Hopwood JJ

series ordinal

2

1 reference

2 August 2017

1 October 2001

1 reference

2 August 2017

1 reference

2 August 2017

18

1 reference

2 August 2017

282-295

1 reference

2 August 2017

4

1 reference

Structure of a human lysosomal sulfatase

2 August 2017

1 reference

Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

21 January 2018

1 reference

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

21 January 2018

1 reference

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

21 January 2018

1 reference

Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum

21 January 2018

1 reference

Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases

21 January 2018

1 reference

Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI

21 January 2018

1 reference

Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values

21 January 2018

1 reference

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

21 January 2018

1 reference

Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses

21 January 2018

1 reference

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1

21 January 2018

1 reference

A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14

21 January 2018

1 reference

Components and proteolytic processing sites of arylsulfatase B from human placenta

21 January 2018

1 reference

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation

21 January 2018

1 reference

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

21 January 2018

1 reference

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

21 January 2018

1 reference

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

21 January 2018

1 reference

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

21 January 2018

1 reference

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

21 January 2018

1 reference

21 January 2018

1 reference

Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.

21 January 2018

1 reference

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

21 January 2018

1 reference

Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS

21 January 2018

1 reference

7 January 2021

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome

1 reference

7 January 2021

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

1 reference

7 January 2021

Structure of the human arylsulfatase B gene.

1 reference

7 January 2021

N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI

1 reference

7 January 2021

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online

1 reference

7 January 2021

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

1 reference

7 January 2021

Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.1190

1 reference

2 August 2017

1 reference

PubMed ID

11668612