(Q50335689)

5 March 2018

title

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

1 reference

5 March 2018

author

Michele Saviano

4

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5 March 2018

author name string

G R Villani

1

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5 March 2018

N Balzano

2

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5 March 2018

D Vitale

3

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5 March 2018

V Pavone

5

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5 March 2018

P Di Natale

6

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5 March 2018

publication date

1 February 1999

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5 March 2018

Biochimica et Biophysica Acta

published in

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5 March 2018

volume

1453

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5 March 2018

issue

2

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5 March 2018

page(s)

185-192

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5 March 2018

Structure of a human lysosomal sulfatase

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

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

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Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine

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7 January 2021

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

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Structure of the human arylsulfatase B gene.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Heterogeneity of DNA and RNA in Hunter patients

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

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Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

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

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7 January 2021

10.1016/S0925-4439(98)00099-4

Identifiers

DOI

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5 March 2018

PubMed ID

10036316

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5 March 2018