(Q24310031)

English

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition

scientific article

In more languages

Statements

scholarly article

0 references

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition (English)

0 references

0 references

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

1 reference

GOA release 2020-03-11

N-glycan processing to lysosome

1 reference

GOA release 2020-03-11

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

1 reference

GOA release 2020-03-11

2

object named as

Eline van Meel

0 references

author name string

Yi Qian

1

0 references

Eline van Meel

2

0 references

Heather Flanagan-Steet

3

0 references

Alex Yox

4

0 references

Richard Steet

5

0 references

Stuart Kornfeld

6

0 references

language of work or name

0 references

publication date

30 January 2015

0 references

Journal of Biological Chemistry

0 references

290

0 references

5

0 references

3045-56

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

Nuclear magnetic resonance structure of a prototype Lin12-Notch repeat module from human Notch1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

Stages of embryonic development of the zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

Mannose 6-phosphate receptors: new twists in the tale

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

19 March 2017

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

A novel xylosylphosphotransferase activity discovered in Cryptococcus neoformans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

27 September 2017

Molecular cloning and functional characterization of components of the capsule biosynthesis complex of Neisseria meningitidis serogroup A: toward in vitro vaccine production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

30 May 2018

Characterization of the meningococcal serogroup X capsule N-acetylglucosamine-1-phosphotransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

30 May 2018

Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.612507

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.612507

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/10.1074%2FJBC.M114.612507

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/10.1074%2FJBC.M114.612507

21 January 2018

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.612507

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M114.612507

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/10.1074%2FJBC.M114.612507

21 January 2018

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4317033

29 November 2018

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://pubmed.ncbi.nlm.nih.gov/25505245

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion

1 reference

https://pubmed.ncbi.nlm.nih.gov/25505245

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25505245

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24310031&oldid=1639082276"