(Q40673810)

22 September 2017

title

Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease (English)

1 reference

22 September 2017

Toshika Okumiya

1

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22 September 2017

Hitoshi Sakuraba

series ordinal

2

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22 September 2017

Ryoichi Kase

series ordinal

3

1 reference

22 September 2017

Tetsuro Sugiura

series ordinal

4

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22 September 2017

language of work or name

1 reference

1 January 2003

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Molecular Genetics and Metabolism

22 September 2017

published in

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22 September 2017

volume

78

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22 September 2017

issue

1

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22 September 2017

page(s)

51-58

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Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

22 September 2017

cites work

1 reference

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7 January 2021

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Beta-galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Normal serum beta-galactosidase in juvenile GM1 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Clinical and molecular analysis of a Japanese boy with Morquio B disease

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Protective protein gene mutations in galactosialidosis

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Galactosialidosis (beta-galactosidase-neuraminidase deficiency): a possible role of serine-thiol proteases in the degradation of beta-galactosidase molecules

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

The effects of acid glycosaminoglycans on neonatal calvarian cultures — A role of keratan sulfate in morquio syndrome?

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7 January 2021

The elastin receptor: a galactoside-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

The 67-kD elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

67-kD elastin-binding protein is a protective "companion" of extracellular insoluble elastin and intracellular tropoelastin

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

Impaired elastin fiber assembly related to reduced 67-kD elastin-binding protein in fetal lamb ductus arteriosus and in cultured aortic smooth muscle cells treated with chondroitin sulfate

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900199-3

7 January 2021

10.1016/S1096-7192(02)00199-3

Identifiers

DOI

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22 September 2017

1 reference