(Q37860332)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

review article

1 reference

title

Pharmacological chaperone therapy for Gaucher disease: a patent review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

0 references

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Carmen Ortiz Mellet

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

José Manuel García Fernández

27 January 2020

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

José M García Fernández

series ordinal

2

1 reference

24 August 2017

language of work or name

English

0 references

publication date

4 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

Expert Opinion on Therapeutic Patents

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

885-903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

The cell biology of lysosomal storage disorders

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Diagnosis of lysosomal storage disorders: current techniques and future directions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Glycosphingolipids--nature, function, and pharmacological modulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Pharmacological small molecules for the treatment of lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Pharmacological chaperones: potential treatment for conformational diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Therapeutic approaches to protein-misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Therapeutic goals in the treatment of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Gaucher disease: complexity in a "simple" disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Phenotype, diagnosis, and treatment of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Hematologically important mutations: Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Substrate reduction therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Gangliosides Inhibit Glucosylceramide Synthase: A Possible Role in Ganglioside Therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Treatment of Gaucher disease with an enzyme inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Taking stock and planning for the next decade: realistic prospects for stem cell therapies for the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Gene therapy. Second child in French trial is found to have leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Leukemia case triggers tighter gene-therapy controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Pharmacologic chaperoning as a strategy to treat Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chemical and biological folding contribute to temperature-sensitive DeltaF508 CFTR trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis: progress to date.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Castanospermine-trehazolin hybrids: a new family of glycomimetics with tuneable glycosidase inhibitory properties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Synthesis and evaluation of isourea-type glycomimetics related to the indolizidine and trehazolin glycosidase inhibitor families

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Synthesis and biological evaluation of guanidine-type iminosugars.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The risk of Parkinson's disease in type 1 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Therapy through chaperones: sense or antisense? Cystic fibrosis as a model disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Roles of molecular chaperones in protein misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chaperoning prions: the cellular machinery for propagating an infectious protein?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Modulation of neurodegeneration by molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Isofagomine induced stabilization of glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Aggresomes: a cellular response to misfolded proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543776.2011.569162

10.1517/13543776.2011.569162

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21457079%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference