Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) (Q33939250)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712439%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) (English)

1 reference

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pseudo-Hurler polydystrophy

4 November 2019

main subject

1 reference

inferred from title

author

Valérie Cormier-Daire

2

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4 November 2019

Emmanuelle Génin

4

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4 November 2019

author name string

A Raas-Rothschild

1

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4 November 2019

M Bao

3

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4 November 2019

R Salomon

5

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4 November 2019

K Brewer

6

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4 November 2019

M Zeigler

7

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4 November 2019

H Mandel

8

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4 November 2019

S Toth

9

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4 November 2019

B Roe

10

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4 November 2019

W M Canfield

12

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4 November 2019

A Munnich

11

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4 November 2019

language of work or name

English

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publication date

1 March 2000

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Journal of Clinical Investigation

4 November 2019

published in

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4 November 2019

volume

105

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4 November 2019

issue

5

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4 November 2019

page(s)

673-681

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Protein family classification based on searching a database of blocks

4 November 2019

cites work

1 reference

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Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

5 July 2018

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Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation

5 July 2018

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Mucolipidosis III is genetically heterogeneous

5 July 2018

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Easy calculations of lod scores and genetic risks on small computers

5 July 2018

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

5 July 2018

1 reference

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A putative signal peptidase recognition site and sequence in eukaryotic and prokaryotic signal peptides

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=289169

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

5 July 2018

1 reference

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Trafficking of lysosomal enzymes.

5 July 2018

1 reference

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

5 July 2018

1 reference

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

5 July 2018

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Mannose 6-phosphate receptors and lysosomal enzyme targeting

5 July 2018

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A system for rapid DNA sequencing with fluorescent chain-terminating dideoxynucleotides

5 July 2018

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Basic local alignment search tool

5 July 2018

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An analysis of vertebrate mRNA sequences: intimations of translational control

5 July 2018

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A sequence assembly and editing program for efficient management of large projects

5 July 2018

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A second-generation linkage map of the human genome

5 July 2018

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The function of calcium in protein C activation by thrombin and the thrombin-thrombomodulin complex can be distinguished by mutational analysis of protein C derivatives

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

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A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

5 July 2018

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12 December 2020

An X windows and UNIX implementation of our sequence analysis package

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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

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

Phosphorylation of the oligosaccharide of uteroferrin by UDP-GlcNAc:glycoprotein N-acetylglucosamine-1-phosphotransferases from rat liver, Acanthamoeba castellani, and Dictyostelium discoideum requires alpha 1,2-linked mannose residues

1 reference

12 December 2020

Hurler's pseudo-polydystrophy

1 reference

12 December 2020

UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

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

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

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12 December 2020

Identifiers

DOI

10.1172/JCI5826

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712439%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10712439%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference