(Q24316957)

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Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB) (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

endoplasmic reticulum

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1 reference

based on heuristic

inferred from title

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

1 reference

GOA release 2020-03-11

Maria Francisca Coutinho

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Friedrich Koch-Nolte

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Maria João Prata

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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Raffaella De Pace

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Friedrich Haag

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Thomas Braulke

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Sandra Pohl

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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publication date

15 January 2014

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

35

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Europe PubMed Central

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3 March 2020

3

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Europe PubMed Central

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3 March 2020

368-376

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Sorting of lysosomal proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Lysosomes revisited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Use of genetic immunization to raise antibodies recognizing toxin-related cell surface ADP-ribosyltransferases in native conformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mannose phosphorylation in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Monitoring the expression of purinoceptors and nucleotide-metabolizing ecto-enzymes with antibodies directed against proteins in native conformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

A better cell line for making hybridomas secreting specific antibodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Stealth proteins: in silico identification of a novel protein family rendering bacterial pathogens invisible to host immune defense

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Genetic basis for biosynthesis of the (alpha 1-->4)-linked N-acetyl-D-glucosamine 1-phosphate capsule of Neisseria meningitidis serogroup X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular order in mucolipidosis II and III nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

7 January 2021

based on heuristic

inferred from DOI database lookup

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22502

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22502

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24375680%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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