Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests (Q35550530)

8 August 2017

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

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8 August 2017

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Maria Vittoria Cubellis

7

object named as

Maria Vittoria Cubellis

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8 August 2017

Marco Cammisa

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ORCID Public Data File 2021

author name string

Giuseppina Andreotti

1

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8 August 2017

Valentina Citro

2

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8 August 2017

Agostina De Crescenzo

3

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8 August 2017

Pierangelo Orlando

4

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8 August 2017

Antonella Correra

6

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8 August 2017

17 October 2011

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Orphanet Journal of Rare Diseases

8 August 2017

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8 August 2017

6

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8 August 2017

66

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-66

8 August 2017

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cites work

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

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

12 July 2018

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

12 July 2018

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Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies

12 July 2018

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Functional studies of new GLA gene mutations leading to conformational Fabry disease.

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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Andante: reducing side-chain rotamer search space during comparative modeling using environment-specific substitution probabilities.

12 July 2018

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

12 July 2018

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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

12 July 2018

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

12 July 2018

1 reference

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Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

12 July 2018

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Gene Symbol: SLC55A2. Disease: familial renal glucosuria.

12 July 2018

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Enhanced plasmid DNA transfection with lysosomotropic agents in cultured fibroblasts

12 July 2018

1 reference

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Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

12 July 2018

1 reference

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

12 July 2018

1 reference

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The frequency of lysosomal storage diseases in The Netherlands.

12 July 2018

1 reference

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Prevalence of lysosomal storage disorders

12 July 2018

1 reference

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JOY: protein sequence-structure representation and analysis.

12 July 2018

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

12 July 2018

1 reference

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Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables

12 July 2018

1 reference

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Solvent-accessible surfaces of proteins and nucleic acids

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3216245

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

12 July 2018

1 reference

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Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-66

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-66

A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-66

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-66

Properties of polyproline II, a secondary structure element implicated in protein-protein interactions

21 January 2018

1 reference

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Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.

21 January 2018

1 reference

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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

21 January 2018

1 reference

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Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3216245

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3216245

26 September 2018

1 reference

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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

26 September 2018

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

12 December 2020

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

1 reference

12 December 2020

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-66

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Dimensions Publication ID

8 August 2017

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1 reference

8 August 2017

1 reference