(Q37799818)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Pharmacological small molecules for the treatment of lysosomal storage disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

2

1 reference

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15 February 2020

Rolf G Boot

3

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15 February 2020

author name string

B E Smid

1

1 reference

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15 February 2020

G E Linthorst

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

C E M Hollak

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

0 references

publication date

13 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

Expert Opinion on Investigational Drugs

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

11

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15 February 2020

page(s)

1367-1379

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

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

15 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

The cell biology of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Prevalence of lysosomal storage disorders

21 January 2018

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The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

21 January 2018

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

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https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Remaining problems in the management of patients with Gaucher disease

21 January 2018

1 reference

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Vasculopathy in patients with Fabry disease: current controversies and research directions.

21 January 2018

1 reference

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Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Enzyme replacement therapy in the mouse model of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Lysosomal storage diseases: natural history and ethical and economic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Limitations of enzyme replacement therapy: current and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

2,5-Dideoxy-2,5-imino-d-altritol as a new class of pharmacological chaperone for Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Glycosphingolipids--nature, function, and pharmacological modulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

Treatment of Gaucher disease with an enzyme inhibitor

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Epidermal growth factor potentiates the induction of ornithine decarboxylase activity by prostaglandins in embryonic palate mesenchymal cells: effects on cell proliferation and glycosaminoglycan synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Neonatal exposure to the phytoestrogen genistein alters mammary gland growth and developmental programming of hormone receptor levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

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%2F13543784.2010.524205

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%2F13543784.2010.524205

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Stop-codon read-through for patients affected by a lysosomal storage disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Ignoring the nonsense: a phase II trial in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Novel therapeutic targets for the treatment of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F13543784.2010.524205

10.1517/13543784.2010.524205

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20942596%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference