Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease (Q33478327)

27 July 2017

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

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27 July 2017

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1

Gustavo H B Maegawa

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27 July 2017

Michael B Tropak

2

1 reference

27 July 2017

Justin D Buttner

3

1 reference

27 July 2017

Brigitte A Rigat

4

1 reference

27 July 2017

Maria Fuller

5

1 reference

27 July 2017

Deepangi Pandit

6

1 reference

27 July 2017

Liangiie Tang

7

1 reference

27 July 2017

Gregory J Kornhaber

8

1 reference

27 July 2017

Yoshitomo Hamuro

9

1 reference

27 July 2017

Joe T R Clarke

10

1 reference

27 July 2017

Don J Mahuran

11

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27 July 2017

language of work or name

English

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publication date

3 July 2009

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Journal of Biological Chemistry

27 July 2017

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27 July 2017

284

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27 July 2017

23502-23516

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27 July 2017

35

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

27 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Isofagomine induced stabilization of glucocerebrosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Ambroxol in the 21st century: pharmacological and clinical update

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Nordihydroguaiaretic acid increases glutamate uptake in vitro and in vivo: therapeutic implications for amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

21 June 2018

Ambroxol: a CNS drug?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Tiagabine is neuroprotective in the N171-82Q and R6/2 mouse models of Huntington's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

H/D exchange and mass spectrometry-based method for biophysical analysis of multidomain proteins at the domain level

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Pharmacologic chaperoning as a strategy to treat Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Nortriptyline delays disease onset in models of chronic neurodegeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Signal integration in the endoplasmic reticulum unfolded protein response

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Parkinsonism among Gaucher disease carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Rapid analysis of protein structure and dynamics by hydrogen/deuterium exchange mass spectrometry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

A simple method for the isolation and purification of total lipides from animal tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Accuracy and Precision of a New H/D Exchange- and Mass Spectrometry-Based Technique for Measuring the Thermodynamic Properties of Protein−Peptide Complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Gaucher disease: Perspectives on a prototype lysosomal disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Python: a programming language for software integration and development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

New perspectives in type 2 Gaucher disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Determination of amide hydrogen exchange by mass spectrometry: a new tool for protein structure elucidation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Ambroxol for prevention and treatment of hyaline membrane disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Allogenic bone marrow transplantation in severe Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2749124

Divergent phenotypes in Gaucher disease implicate the role of modifiers

21 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

An Adaptable Standard for Protein Export from the Endoplasmic Reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Secondary sphingolipid accumulation in a macrophage model of Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Fully automated molecular mechanics based induced fit protein-ligand docking method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Metabolism of bromhexine in pig hepatocyte cultures

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Gaucher disease: improving management

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Oral ambroxol supplement in pregnant women induces fetal lung maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Ambroxol suppresses influenza-virus proliferation in the mouse airway by increasing antiviral factor levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Ambroxol inhibits interleukin 1 and tumor necrosis factor production in human mononuclear cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Bioequivalence assessment of ambroxol tablet after a single oral dose administration to healthy male volunteers

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Ambroxol lozenge bioavailability : an open-label, two-way crossover study of the comparative bioavailability of ambroxol lozenges and commercial tablets in healthy thai volunteers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M109.012393

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

21 January 2018

1 reference

12 December 2020

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

1 reference

12 December 2020

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

1 reference

12 December 2020

Fate and sorting of acid beta-glucosidase in transgenic mammalian cells

1 reference

12 December 2020

Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders

1 reference

12 December 2020

Treatment perspectives for the lysosomal storage diseases

1 reference

12 December 2020

HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma

1 reference

12 December 2020

Determination of ambroxol in biological material by gas chromatography with electron-capture detection

1 reference

12 December 2020

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

12 December 2020

Steady-state bioavailability and pharmacokinetics of ambroxol and clenbuterol administered alone and combined in a new oral formulation

1 reference

12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

12 December 2020

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

1 reference

12 December 2020

Dose-dependent uricosuric effect of ambroxol

1 reference

12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

1 reference

12 December 2020

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M109.012393

1 reference

27 July 2017

1 reference

27 July 2017

1 reference