(Q48169854)

9 February 2018

title

Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins (English)

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9 February 2018

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Shunji Tomatsu

1

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9 February 2018

Carole Vogler

2

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9 February 2018

Adriana M Montaño

3

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9 February 2018

Monica Gutierrez

4

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9 February 2018

Hirotaka Oikawa

5

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9 February 2018

Vu Chi Dung

6

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9 February 2018

Tadao Orii

7

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9 February 2018

Akihiko Noguchi

8

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9 February 2018

William S Sly

9

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9 February 2018

publication date

10 May 2007

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9 February 2018

Molecular Genetics and Metabolism

published in

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9 February 2018

volume

91

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9 February 2018

issue

3

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9 February 2018

page(s)

251-258

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9 February 2018

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

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

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

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Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme

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Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

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Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

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A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

7 January 2021

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

7 January 2021

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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA)

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Morquio B syndrome: a primary defect in beta-galactosidase

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Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice

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

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Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches

7 January 2021

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The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

7 January 2021

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Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

7 January 2021

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Characterization of posttranslational formylglycine formation by luminal components of the endoplasmic reticulum

7 January 2021

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Absence of keratan sulphate from skeletal tissues of mouse and rat.

7 January 2021

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7 January 2021

Identifiers

DOI

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9 February 2018

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9 February 2018