(Q41863654)

13 October 2017

Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy (English)

1 reference

13 October 2017

5

Melançon SB

1 reference

13 October 2017

6

Nadler HL

1 reference

13 October 2017

1

Ben-Yoseph Y

1 reference

13 October 2017

Potier M

2

1 reference

13 October 2017

Mitchell DA

series ordinal

3

1 reference

13 October 2017

Pack BA

series ordinal

4

1 reference

13 October 2017

language of work or name

English

0 references

publication date

1 December 1987

1 reference

13 October 2017

1 reference

13 October 2017

248

1 reference

13 October 2017

3

1 reference

13 October 2017

697-701

1 reference

Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of beta-N-acetylglucosamine-6-sulfate and beta-N-acetylgalactosamine-6-sulfate.

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Mucolipidosis III is genetically heterogeneous

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Target size analysis by radiation inactivation: a large capacity tube rack for irradiation in a Gammacell 220.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

UDP-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase. Partial purification and characterization of the rat liver Golgi enzyme

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Thermal activation of hexosaminidase A in a genetic compound with Tay‐Sachs disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Temperature dependence of the radiation inactivation of proteins.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1148605

Purification of human hexosaminidases A and B by affinity chromatography

5 June 2018

1 reference

12 December 2020

A method for rapid isolation of rough and smooth microsomes and Golgi apparatus from rat liver in the same sucrose gradient

1 reference

12 December 2020

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts

1 reference

12 December 2020

The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases

1 reference

12 December 2020

Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants

1 reference

12 December 2020

Radiation inactivation of enzymes at low dose rates: identical molecular weights of rat liver cytosolic and lysosomal neuraminidases

1 reference

12 December 2020

Heterogeneity in mucolipidosis II (I-cell disease)

1 reference

12 December 2020

Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease

1 reference

12 December 2020

A simplified procedure for synthesizing large quantities of highly purified uridine [β-32P]diphospho-N-acetylglucosamine

1 reference

12 December 2020

Radiometric assays of N-acetylglucosaminylphosphotransferase and α-N-acetylglucosaminyl phosphodiesterase with substrates labeled in the glucosamine moiety

1 reference

12 December 2020

Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and pseudo-Hurler polydystrophy: complementation analysis and kinetic studies

1 reference

12 December 2020

Identifiers

DOI

10.1042/BJ2480697

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

2829837

1 reference