Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones. (Q42130550)

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5 March 2020

title

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (English)

1 reference

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5 March 2020

0 references

1 reference

1

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5 March 2020

Giuseppina Andreotti

series ordinal

3

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5 March 2020

Maria Vittoria Cubellis

series ordinal

4

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5 March 2020

author name string

Antonella Correra

series ordinal

2

1 reference

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publication date

24 July 2013

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Orphanet Journal of Rare Diseases

5 March 2020

published in

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volume

8

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5 March 2020

page(s)

111

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-111

5 March 2020

exact match

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cites work

Identification and analysis of conserved pockets on protein surfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3729670

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3729670

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3729670

Pharmacological chaperone therapy for 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=3729670

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=3729670

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=3729670

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3729670

17 August 2018

Identifiers

DOI

10.1186/1750-1172-8-111

1 reference

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Dimensions Publication ID

5 March 2020

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5 March 2020

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