(Q28553021)

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788225%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease (English)

1 reference

Europe PubMed Central

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26 March 2020

molecular chaperones

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Horacio Pérez-Sánchez

4

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26 March 2020

Maria Vittoria Cubellis

9

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26 March 2020

Giuseppina Andreotti

10

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26 March 2020

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Valentina Citro

1

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26 March 2020

Jorge Peña-García

2

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26 March 2020

Helena den-Haan

3

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26 March 2020

Rosita Del Prete

5

1 reference

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26 March 2020

Ludovica Liguori

6

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26 March 2020

Chiara Cimmaruta

7

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26 March 2020

Jan Lukas

8

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26 March 2020

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27 October 2016

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26 March 2020

1 reference

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26 March 2020

11

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26 March 2020

10

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26 March 2020

e0165463

1 reference

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26 March 2020

copyright license

Creative Commons Attribution 4.0 International

27 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants

1 reference

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19 March 2017

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

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19 March 2017

The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

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19 March 2017

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

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A method and server for predicting damaging missense mutations

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7 April 2017

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

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Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

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29 September 2017

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

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29 September 2017

Identification and analysis of conserved pockets on protein surfaces

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29 September 2017

Cost-effectiveness of enzyme replacement therapy for Fabry disease

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29 September 2017

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

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29 September 2017

2,6-Dithiopurine, a nucleophilic scavenger, protects against mutagenesis in mouse skin treated in vivo with 2-(chloroethyl) ethyl sulfide, a mustard gas analog

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29 September 2017

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

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29 September 2017

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

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29 September 2017

SDM--a server for predicting effects of mutations on protein stability and malfunction

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29 September 2017

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

1 reference

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29 September 2017

2,6-Dithiopurine blocks toxicity and mutagenesis in human skin cells exposed to sulfur mustard analogues, 2-chloroethyl ethyl sulfide and 2-chloroethyl methyl sulfide

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29 September 2017

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

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29 September 2017

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

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29 September 2017

High incidence of later-onset fabry disease revealed by newborn screening

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29 September 2017

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29 September 2017

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Enzyme enhancers for the treatment of Fabry and Pompe disease.

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Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

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Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

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Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

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Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

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Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease

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Prediction of protein stability changes for single-site mutations using support vector machines

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Drug repositioning can accelerate discovery of pharmacological chaperones

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21 January 2018

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21 January 2018

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Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars

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Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

1 reference

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Looking-glass synergistic pharmacological chaperones: DGJ and L-DGJ from the enantiomers of tagatose

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based on heuristic

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Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0165463

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788225%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

2016PLoSO..1165463C

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788225%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27788225%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

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