(Q36305733)

13 August 2017

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

1 reference

13 August 2017

1 reference

D'Azzo A

1

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13 August 2017

Hoogeveen A

2

1 reference

13 August 2017

Reuser AJ

3

1 reference

13 August 2017

Robinson D

4

1 reference

13 August 2017

Galjaard H

5

1 reference

13 August 2017

language of work or name

English

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publication date

1 August 1982

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Proceedings of the National Academy of Sciences of the United States of America

13 August 2017

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13 August 2017

79

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13 August 2017

15

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13 August 2017

4535-4539

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

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Specific inactivation of lysosomal glycosidases in living fibroblasts by the corresponding glycosylmethyl-p-nitrophenyltriazenes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

A Film Detection Method for Tritium-Labelled Proteins and Nucleic Acids in Polyacrylamide Gels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Biosynthesis of two lysosomal enzymes in macrophages. Evidence for a precursor of beta-galactosidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Sialidosis: a review of human neuraminidase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Intergenic complementation after fusion of fibroblasts from different patients with β-galactosidase deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Chloroquine inhibits lysosomal enzyme pinocytosis and enhances lysosomal enzyme secretion by impairing receptor recycling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Genetic heterogeneity in human neuraminidase deficiency.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Generalized gangliosidosis: beta-galactosidase deficiency

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346709

Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system

22 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Correction of combined beta-galactosidase/neuraminidase deficiency in human fibroblasts

1 reference

12 December 2020

Enhanced proteolytic degradation of normal beta-galactosidase in the lysosomal storage disease with combined beta-galactosidase and neuraminidase deficiency

1 reference

12 December 2020

Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts

1 reference

12 December 2020

Sialidosis (mucolipidosis I)

1 reference

12 December 2020

The genetic defect in the various types of human beta-galactosidase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.79.15.4535

1 reference

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

6812049

1 reference