(Q33381275)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

molecular chaperones

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Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

Michael B Tropak

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Gregory J Kornhaber

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Brigitte A Rigat

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Gustavo H Maegawa

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Justin D Buttner

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Jan E Blanchard

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Cecilia Murphy

7

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Steven J Tuske

8

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Stephen J Coales

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Yoshitomo Hamuro

10

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Eric D Brown

11

1 reference

Europe PubMed Central

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26 July 2017

Don J Mahuran

12

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

1 November 2008

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Europe PubMed Central

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26 July 2017

1 reference

Europe PubMed Central

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26 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

16

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

2650-2662

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Isofagomine induced stabilization of glucocerebrosidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Pharmacologic chaperoning as a strategy to treat Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Inference of macromolecular assemblies from crystalline state

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Multiple GPCR conformations and signalling pathways: implications for antagonist affinity estimates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

The crystal structure of human cytosolic beta-glucosidase unravels the substrate aglycone specificity of a family 1 glycoside hydrolase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

ER stress and diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Hydrogen/deuterium-exchange (H/D-Ex) of PPARgamma LBD in the presence of various modulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Lysosomal storage diseases: natural history and ethical and economic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Hematologically important mutations: Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Distinct machinery is required in Saccharomyces cerevisiae for the endoplasmic reticulum-associated degradation of a multispanning membrane protein and a soluble luminal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Enzyme replacement and enhancement therapies for lysosomal diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

High throughput screening identifies novel inhibitors of Escherichia coli dihydrofolate reductase that are competitive with dihydrofolate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Enzyme therapy for Gaucher disease: the first 5 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

2,4-Diamino-5-substituted-quinazolines as inhibitors of a human dihydrofolate reductase with a site-directed mutation at position 22 and of the dihydrofolate reductases from Pneumocystis carinii and Toxoplasma gondii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

21 June 2018

Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

Autophagy controls Salmonella infection in response to damage to the Salmonella-containing vacuole.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

Divergent phenotypes in Gaucher disease implicate the role of modifiers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

Structural comparison of differently glycosylated forms of acid-β-glucosidase, the defective enzyme in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2910749

31 October 2018

Inhibition of beta-glucosidase by imidazoles

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

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

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rational design and synthesis of highly potent beta-glucocerebrosidase inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: variability in phenotype among siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/18972510

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/CBIC.200800304

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

release_b7mb7aedanhvfjuboakxez2ibi

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https://api.fatcat.wiki/v0/release/b7mb7aedanhvfjuboakxez2ibi

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

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Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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