(Q34665552)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Functional studies of new GLA gene mutations leading to conformational Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Anna Zampetti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Amelia Morrone

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

C Filoni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

A Caciotti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

L Carraresi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

C Cavicchi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

D Antuzzi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

S Feriozzi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

P Poisetti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

S C Garman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

R Guerrini

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

E Zammarchi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

M A Donati

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

English

0 references

publication date

24 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

1802

1 reference

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12 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

247-252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

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

12 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Screening for pharmacological chaperones in Fabry disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Cellular and tissue distribution of intravenously administered agalsidase alfa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Quality control in the endoplasmic reticulum protein factory

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Nucleotide sequence of the human alpha-galactosidase A gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3056268

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

26 October 2018

1 reference

12 December 2020

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

12 December 2020

The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study

1 reference

12 December 2020

Protein structure. Chaperones, paperones

1 reference

12 December 2020

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

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

10.1016/J.BBADIS.2009.11.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19941952%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference