Mucolipidosis III is genetically heterogeneous (Q36324168)

13 August 2017

Mucolipidosis III is genetically heterogeneous (English)

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13 August 2017

N K Honey

1

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13 August 2017

O T Mueller

2

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13 August 2017

L E Little

3

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13 August 2017

A L Miller

4

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13 August 2017

T B Shows

5

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13 August 2017

language of work or name

English

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publication date

1 December 1982

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13 August 2017

5

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

inferred from page(s)

published in

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13 August 2017

79

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13 August 2017

7420-7424

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13 August 2017

23

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Protein measurement with the Folin phenol reagent

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

Physicochemical modifications of lysosomal hydrolases during intracellular transport

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

Mucolipidosis II and III: different residual activity of beta‐galactosidase in cultured 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=347351

Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human 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=347351

Acid acylhydrolase deficiency in I-cell disease and pseudo-hurler polydystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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=347351

Dimethyl sulfoxide enhances polyethylene glycol-mediated somatic cell fusion

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

Early events in the biosynthesis of the lysosomal enzyme cathepsin D

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=347351

Genetic heterogeneity in human neuraminidase 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=347351

Leroy's l-cell disease: markedly increased activity of plasma acid hydrolases

22 September 2018

1 reference

12 December 2020

Three cases of mucolipidosis type III (author's transl)

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

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

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

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12 December 2020

Identifiers

DOI

10.1073/PNAS.79.23.7420

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13 August 2017

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13 August 2017

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