A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity (Q35181792)

7 August 2017

1 reference

title

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

1 reference

7 August 2017

Jian-Qiang Fan

1

1 reference

7 August 2017

1 July 2003

1 reference

Trends in Pharmacological Sciences

7 August 2017

1 reference

7 August 2017

24

1 reference

7 August 2017

355-360

1 reference

7 August 2017

7

1 reference

The molecular basis of lysosomal storage diseases and their treatment

7 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Setting the standards: quality control in the secretory pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Experimental and Theoretical Aspects of Protein Folding

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

The endoplasmic reticulum as a protein-folding compartment

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Enzymatic Defect in Fabry's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Residual activity of alpha-galactosidase A in Fabry's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Folding of Secretory and Membrane Proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Misfolding of membrane proteins in health and disease: the lady or the tiger?

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Biosynthesis and degradation of CFTR.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Superfolding of the partially unfolded core-glycosylated intermediate of human P-glycoprotein into the mature enzyme is promoted by substrate-induced transmembrane domain interactions.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Pharmacological chaperones: a new twist on receptor folding.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Pharmacological rescue of mutant p53 conformation and function

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

A peptide that binds and stabilizes p53 core domain: chaperone strategy for rescue of oncogenic mutants

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Unfolding retinal dystrophies: a role for molecular chaperones?

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Quality control in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Clinical features of and recent advances in therapy for Fabry disease

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Receptor-associated protein facilitates proper folding and maturation of the low-density lipoprotein receptor and its class 2 mutants

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Structure-activity relations of successful pharmacologic chaperones for rescue of naturally occurring and manufactured mutants of the gonadotropin-releasing hormone receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Restoration of the tumor suppressor function to mutant p53 by a low-molecular-weight compound.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

6-mer peptide selectively anneals to a pathogenic serpin conformation and blocks polymerization. Implications for the prevention of Z alpha(1)-antitrypsin-related cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Prevention of transthyretin amyloid disease by changing protein misfolding energetics.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

Recovering antibody secretion using a hapten ligand as a chemical chaperone.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-6147%2803%2900158-5

7 January 2021

10.1016/S0165-6147(03)00158-5

Identifiers

DOI

1 reference

release_bybz6jz5efcafn5ohdq4krbnpe

7 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bybz6jz5efcafn5ohdq4krbnpe

24 November 2022

mapped directly with Wikidata item

PubMed ID

12871668

1 reference

PubMed ID

12871668