(Q35214286)

7 August 2017

title

Pharmacological chaperone therapy for lysosomal storage diseases (English)

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7 August 2017

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Marco Moracci

2

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author name string

Giancarlo Parenti

series ordinal

1

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7 August 2017

Simona Fecarotta

series ordinal

3

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7 August 2017

Generoso Andria

series ordinal

4

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7 August 2017

publication date

1 June 2014

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Future Medicinal Chemistry

7 August 2017

published in

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7 August 2017

volume

6

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7 August 2017

issue

9

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7 August 2017

page(s)

1031-1045

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Adapting proteostasis for disease intervention

7 August 2017

cites work

1 reference

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1 reference

Inhibiting toxic aggregation of amyloidogenic proteins: a therapeutic strategy for protein misfolding diseases

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Biological and chemical approaches to diseases of proteostasis deficiency

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Chemical and/or biological therapeutic strategies to ameliorate protein misfolding diseases

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Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases

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

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Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein

21 January 2018

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Strategies for correcting the delta F508 CFTR protein-folding defect

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The cellular pathology of lysosomal diseases

21 January 2018

1 reference

Lysosomal disorders: from storage to cellular damage

21 January 2018

1 reference

Current and emerging therapies for the lysosomal storage disorders

21 January 2018

1 reference

The carbohydrate-active enzymes database (CAZy) in 2013

21 January 2018

1 reference

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

21 January 2018

1 reference

X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.

21 January 2018

1 reference

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

21 January 2018

1 reference

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 January 2018

1 reference

α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants

21 January 2018

1 reference

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

21 January 2018

1 reference

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

21 January 2018

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Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

21 January 2018

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Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

21 January 2018

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

21 January 2018

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Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

21 January 2018

1 reference

Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis

21 January 2018

1 reference

The X-ray Crystal Structure of Human β-Hexosaminidase B Provides New Insights into Sandhoff Disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Crystal Structure of Human -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASES

21 January 2018

1 reference

Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis

21 January 2018

1 reference

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

21 January 2018

1 reference

The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases

21 January 2018

1 reference

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

21 January 2018

1 reference

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

21 January 2018

1 reference

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

21 January 2018

1 reference

Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis.

21 January 2018

1 reference

A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.

21 January 2018

1 reference

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Discovery of a novel noniminosugar acid α glucosidase chaperone series

21 January 2018

1 reference

Chemical and pharmacological chaperones: application for recombinant protein production and protein folding diseases

21 January 2018

1 reference

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

21 January 2018

1 reference

On the design of broad based screening assays to identify potential pharmacological chaperones of protein misfolding diseases

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease

21 January 2018

1 reference

New insights into the pharmacological chaperone activity of c2-substituted glucoimidazoles for the treatment of Gaucher disease.

21 January 2018

1 reference

The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

21 January 2018

1 reference

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

21 January 2018

1 reference

Pharmacological chaperones for human -N-acetylgalactosaminidase

21 January 2018

1 reference

Pharmacological chaperones as therapeutics for lysosomal storage diseases

21 January 2018

1 reference

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

21 January 2018

1 reference

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

21 January 2018

1 reference

Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges

21 January 2018

1 reference

Treatment options for lysosomal storage disorders: developing insights

21 January 2018

1 reference

Gene therapy for lysosomal storage diseases.

21 January 2018

1 reference

Gene therapy approaches for lysosomal storage disease: next-generation treatment

21 January 2018

1 reference

Substrate reduction therapy

21 January 2018

1 reference

Enzyme replacement therapy for lysosomal storage diseases

21 January 2018

1 reference

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

21 January 2018

1 reference

Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.

21 January 2018

1 reference

Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

21 January 2018

1 reference

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

21 January 2018

1 reference

Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A new resorufin-based alpha-glucosidase assay for high-throughput screening

21 January 2018

1 reference

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

21 January 2018

1 reference

Catalytic mechanism of human alpha-galactosidase

21 January 2018

1 reference

Detection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase

21 January 2018

1 reference

Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine

21 January 2018

1 reference

Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.

21 January 2018

1 reference

The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease

21 January 2018

1 reference

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

21 January 2018

1 reference

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

21 January 2018

1 reference

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

21 January 2018

1 reference

Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice

21 January 2018

1 reference

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.4155/FMC.14.40

1 reference

release_pkf6unp65feejdh5c5gzvcjqm4

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pkf6unp65feejdh5c5gzvcjqm4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference