Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q40960071)
Watch
English
Taming molecular flexibility to tackle rare diseases.
scientific article published on 2 April 2015
In more languages
edit
Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
title
Taming molecular flexibility to tackle rare diseases
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
main subject
rare disease
1 reference
based on heuristic
inferred from title
author
Maria Vittoria Cubellis
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
Giuseppina Andreotti
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
Marc Baaden
series ordinal
2
object named as
Marc Baaden
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
publication date
2 April 2015
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
published in
Biochimie
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
volume
113
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
page(s)
54-58
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
cites work
A thermodynamic assay to test pharmacological chaperones for Fabry disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Pharmacological chaperones for enzyme enhancement therapy in genetic diseases.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Identification and analysis of conserved pockets on protein surfaces
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Targeting unfolded protein response signaling pathways to ameliorate protein misfolding diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
High incidence of later-onset fabry disease revealed by newborn screening
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Secondary structure assignment that accurately reflects physical and evolutionary characteristics.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
GROMACS: fast, flexible, and free
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Loss of protein structure stability as a major causative factor in monogenic disease.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Making optimal use of empirical energy functions: force-field parameterization in crystal space
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
UCSF Chimera--a visualization system for exploratory research and analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
25 September 2017
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
19 August 2018
Fabry disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4441037
retrieved
4 November 2018
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25841341
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25841341
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25841341
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.BIOCHI.2015.03.018
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
PMCID
4441037
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
PubMed ID
25841341
1 reference
stated in
Europe PubMed Central
PMCID
4441037
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25841341%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 March 2020
ResearchGate publication ID
274405264
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit