(Q28820747)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

title

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

main subject

molecular chaperones

0 references

aspartylglucosaminuria

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Ritva Tikkanen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

author name string

Antje Banning

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Christina Gülec

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Steven J Gray

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

language of work or name

English

0 references

publication date

23 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

37583

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

28 March 2020

copyright license

start time

23 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5120323/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Free Glycine Accelerates the Autoproteolytic Activation of Human Asparaginase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Structural insights into the mechanism of intramolecular proteolysis

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Several cooperating binding sites mediate the interaction of a lysosomal enzyme with phosphotransferase

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Three-dimensional structure of human lysosomal aspartylglucosaminidase

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Lysosomal storage diseases: from pathophysiology to therapy.

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Pharmacological chaperone therapy for lysosomal storage diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Pharmacological chaperones as therapeutics for lysosomal storage diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Gene therapy and neurodevelopmental disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Betaine in human nutrition

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Activation and oligomerization of aspartylglucosaminidase.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

A mouse model for the human lysosomal disease aspartylglycosaminuria.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Intracellular sorting of aspartylglucosaminidase: the role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Spectrum of mutations in aspartylglucosaminuria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5120323

Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy

3 June 2018

1 reference

Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse

21 January 2018

1 reference

Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse

21 January 2018

1 reference

Two-step dimerization for autoproteolysis to activate glycosylasparaginase

21 January 2018

1 reference

Activation of glycosylasparaginase. Formation of active N-terminal threonine by intramolecular autoproteolysis.

21 January 2018

1 reference

Glycosylasparaginase inhibition studies: competitive inhibitors, transition state mimics, noncompetitive inhibitors

21 January 2018

1 reference

Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy

21 January 2018

1 reference

Primary Folding of Aspartylglucosaminidase

21 January 2018

1 reference

The Dileucine Motif Within the Tail of MPR46 is Required for Sorting of the Receptor in Endosomes

21 January 2018

1 reference

Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study

21 January 2018

1 reference

12 December 2020

Dissection of the molecular consequences of a double mutation causing a human lysosomal disease

1 reference

12 December 2020

Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria

1 reference

12 December 2020

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

1 reference

12 December 2020

Identifiers

DOI

10.1038/SREP37583

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27876883%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

PubMed publication ID

27876883

1 reference