(Q42323945)

26 October 2017

α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants (English)

1 reference

26 October 2017

0 references

1 reference

1 reference

7

1 reference

26 October 2017

9

1 reference

26 October 2017

Rodrigo Gallardo

4

0 references

Joke Reumers

object named as

Joke Reumers

3

0 references

author name string

Aleksandra Siekierska

1

1 reference

26 October 2017

Greet De Baets

2

1 reference

26 October 2017

Stanislav Rudyak

5

1 reference

26 October 2017

Kerensa Broersen

6

1 reference

26 October 2017

Joost Van Durme

8

1 reference

26 October 2017

Frederic Rousseau

10

1 reference

26 October 2017

language of work or name

English

0 references

publication date

6 July 2012

1 reference

26 October 2017

12

1 reference

Journal of Biological Chemistry

inferred from page(s)

published in

1 reference

26 October 2017

287

1 reference

26 October 2017

34

1 reference

26 October 2017

28386-28397

1 reference

describes a project that uses

26 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3436532/fullTextXML

inferred from PubMed Central ID database lookup

cites work

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Chemical and/or biological therapeutic strategies to ameliorate protein misfolding diseases

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Biological and chemical approaches to diseases of proteostasis deficiency

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Protein sequences encode safeguards against aggregation.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Quantifying information transfer by protein domains: analysis of the Fyn SH2 domain structure

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Update on treatment of lysosomal storage diseases

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Enzyme replacement for lysosomal diseases

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

The FoldX web server: an online force field

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Prediction of sequence-dependent and mutational effects on the aggregation of peptides and proteins

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Structural basis of Fabry disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

The propagation of binding interactions to remote sites in proteins: analysis of the binding of the monoclonal antibody D1.3 to lysozyme

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

alpha-Galactosidase A deficient mice: a model of Fabry disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Antiviral activity of brefeldin A and verrucarin A.

29 May 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

29 May 2018

https://api.crossref.org/works/10.1074%2FJBC.M112.351056

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Brefeldin A: insights into the control of membrane traffic and organelle structure

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

How evolutionary pressure against protein aggregation shaped chaperone specificity

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436532

Structural characterization of mutant alpha-galactosidases causing Fabry disease

17 August 2018

1 reference

12 December 2020

1 reference

12 December 2020

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M112.351056

1 reference

26 October 2017

1 reference

26 October 2017

1 reference