(Q41491325)

1 October 2017

title

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

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1 October 2017

A Oshima

1

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1 October 2017

K Yoshida

2

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1 October 2017

K Itoh

3

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1 October 2017

R Kase

4

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1 October 2017

H Sakuraba

5

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1 October 2017

Y Suzuki

6

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1 October 2017

publication date

1 February 1994

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1 October 2017

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1 October 2017

volume

93

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1 October 2017

issue

2

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1 October 2017

page(s)

109-114

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https://scigraph.springernature.com/pub.10.1007/bf00210592

1 October 2017

exact match

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cites work

Incorporation and degradation of GM1 ganglioside and asialoGM1 ganglioside in cultured fibroblasts from normal individuals and patients with beta-galactosidase deficiency.

1 reference

12 December 2020

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases

1 reference

12 December 2020

A method for determining the sedimentation behavior of enzymes: application to protein mixtures

1 reference

12 December 2020

GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor

1 reference

12 December 2020

Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors

1 reference

12 December 2020

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

1 reference

12 December 2020

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients

1 reference

12 December 2020

Immunoelectron microscopical localization of lysosomal beta-galactosidase and its precursor forms in normal and mutant human fibroblasts

1 reference

12 December 2020

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

1 reference

12 December 2020

A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis

1 reference

12 December 2020

Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family

1 reference

12 December 2020

Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency

1 reference

12 December 2020

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

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12 December 2020

Protective protein gene mutations in galactosialidosis

1 reference

12 December 2020

Human beta-galactosidase gene mutations in morquio B disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210592

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Dimensions Publication ID

1 October 2017

1000820228

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