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

3

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Monica Gutierrez

4

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Hirotaka Oikawa

5

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Vu Chi Dung

6

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Tadao Orii

7

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Akihiko Noguchi

8

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William S Sly

9

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publication date

10 May 2007

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Molecular Genetics and Metabolism

published in

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9 February 2018

volume

91

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9 February 2018

page(s)

251-258

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issue

3

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

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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 Sanfilippo disease type A (MPS IIIA)

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

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

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

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

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7 January 2021

Identifiers

DOI

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9 February 2018

PubMed ID

17498992

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9 February 2018