(Q37131892)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

0 references

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

author name string

Sang H Shin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Stefanie Kluepfel-Stahl

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Adele M Cooney

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Jane M Quirk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Raphael Schiffmann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Roscoe O Brady

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Gary J Murray

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

publication date

1 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

Pharmacogenetics and Genomics

12 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

page(s)

773-780

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

Screening for pharmacological chaperones in Fabry disease

12 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Mendelian Inheritance in Man and its online version, OMIM

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Cellular and tissue distribution of intravenously administered agalsidase alfa

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Structural basis of Fabry disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Measurement of protein using bicinchoninic acid

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Purification and properties of the two major isozymes of alpha-galactosidase from human placenta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Biosynthesis of the lysosomal enzyme glucocerebrosidase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Fabry's disease--an important risk factor for stroke.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657085

Enzymatic Defect in Fabry's Disease

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18698230

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/FPC.0B013E32830500F4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18698230%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference