(Q28119032)

English

Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts

scientific article published on September 1, 1982

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scholarly article

1 reference

4 January 2017

Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts (English)

1 reference

4 January 2017

0 references

Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

1 reference

GOA release 2020-03-11

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity

1 reference

GOA release 2020-03-11

Dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

1 reference

GOA release 2020-03-11

pseudo-Hurler polydystrophy

1 reference

based on heuristic

inferred from title

Transferases (Other Substituted Phosphate Groups)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

1 reference

based on heuristic

inferred from title

Marc L. Reitman

2

object named as

M. L. Reitman

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

author name string

A. Varki

1

1 reference

4 January 2017

A. Vannier

3

1 reference

4 January 2017

S. Kornfeld

4

1 reference

4 January 2017

J. H. Grubb

5

1 reference

4 January 2017

W. S. Sly

6

1 reference

4 January 2017

language of work or name

0 references

publication date

1 September 1982

1 reference

4 January 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6289658/?tool=EBI

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6289658/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

https://europepmc.org/articles/PMC1685437

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

https://europepmc.org/articles/PMC1685437?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6289658

17 September 2023

American Journal of Human Genetics

1 reference

4 January 2017

34

1 reference

4 January 2017

717–729

1 reference

4 January 2017

5

1 reference

4 January 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

20 March 2017

UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

20 March 2017

Processing of the phosphorylated recognition marker in lysosomal enzymes. Characterization and partial purification of a microsomal alpha-N-acetylglucosaminyl phosphodiesterase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

20 March 2017

Subcellular location of two enzymes involved in the synthesis of phosphorylated recognition markers in lysosomal enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

20 March 2017

Phosphorylated oligosaccharides in lysosomal enzymes: identification of alpha-N-acetylglucosamine(1)phospho(6)mannose diester groups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Approaches to the control and prevention of Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in the I cell disease heterozygote

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Inborn errors of lysosomal catabolism—principles of heterozygote detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

Identification of mannose 6-phosphate in glycoproteins that inhibit the assimilation of β-galactosidase by fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

29 September 2017

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

2 June 2018

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

2 June 2018

Biosynthetic intermediates of beta-glucuronidase contain high mannose oligosaccharides with blocked phosphate residues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685437

27 November 2018

Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

I-cell disease (mucolipidosis type II). Serum hydrolases in obligate heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity in multiple lysosomal hydrolase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

I-cell disease: Deficiency of extracellular hydrolase phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a rat liver alpha-N-acetylglucosaminyl phosphodiesterase capable of removing “blocking” alpha-N-acetylglucosamine residues from phosphorylated high mannose oligosaccharides of lysosomal enzymes

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural studies of phosphorylated high mannose-type oligosaccharides

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and characterization of rat liver alpha-N-acetylglucosaminyl phosphodiesterase

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The assay of arylsulphatases A and B in human urine

1 reference

https://pubmed.ncbi.nlm.nih.gov/6289658

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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0 references

1 reference

4 January 2017

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