Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis (Q33822334)

29 July 2017

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

1 reference

Transferases (Other Substituted Phosphate Groups)

29 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6309902

24 September 2023

author name string

O. T. Mueller

1

1 reference

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24 September 2023

N. K. Honey

2

1 reference

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24 September 2023

L. E. Little

3

1 reference

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24 September 2023

A. L. Miller

4

1 reference

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24 September 2023

T. B. Shows

5

1 reference

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24 September 2023

language of work or name

English

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publication date

1 September 1983

1 reference

full work available at URL

29 July 2017

http://www.jci.org/articles/view/111025/files/pdf

file format

Portable Document Format

online access status

open access

1 reference

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https://europepmc.org/articles/PMC1129268

24 September 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6309902

https://europepmc.org/articles/PMC1129268?pdf=render

24 September 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6309902

http://www.jci.org/articles/view/111025/files/pdf

24 September 2023

1 reference

https://api.crossref.org/works/10.1172/JCI111025

Journal of Clinical Investigation

24 September 2023

published in

1 reference

29 July 2017

72

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29 July 2017

3

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29 July 2017

1016-1023

1 reference

Protein measurement with the Folin phenol reagent

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Mucolipidosis III is genetically heterogeneous

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Characterization of a membrane-associated receptor from bovine liver that binds phosphomannosyl residues of bovine testicular beta-galactosidase

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

I-cell disease: biochemical studies.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

I-cell disease: a clinical picture.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Dimethyl sulfoxide enhances polyethylene glycol-mediated somatic cell fusion

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Genetic heterogeneity in human neuraminidase deficiency.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1129268

Studies on the pathogenetic mechanism of I-cell disease in cultured fibroblasts

29 October 2018

1 reference

12 December 2020

Genetic heterogeneity in GM1-gangliosidosis

1 reference

12 December 2020

I-cell disease: Deficiency of extracellular hydrolase phosphorylation

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

12 December 2020

Complementation of genetic disease: A velocity sedimentation procedure for the enrichment of heterokaryons

1 reference

12 December 2020

Phosphomannosyl-enzyme receptors in rat liver. Subcellular distribution and role in intracellular transport of lysosomal enzymes

1 reference

12 December 2020

Maturation of alpha-L-iduronidase in cultured human fibroblasts

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

Properties of N-acetyl-beta-D-hexosaminidase from isolated normal and I-cell lysosomes

1 reference

12 December 2020

The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases

1 reference

12 December 2020

Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III

1 reference

12 December 2020

Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency

1 reference

12 December 2020

Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease

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

Identifiers

DOI

10.1172/JCI111025

1 reference

29 July 2017

1 reference

29 July 2017

1 reference