Enzyme replacement and enhancement therapies for lysosomal diseases (Q35800534)

10 August 2017

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title

Enzyme replacement and enhancement therapies for lysosomal diseases (English)

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10 August 2017

Desnick RJ

1

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10 August 2017

1 January 2004

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Journal of Inherited Metabolic Disease

10 August 2017

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10 August 2017

27

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10 August 2017

3

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10 August 2017

385-410

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https://scigraph.springernature.com/pub.10.1023/b:boli.0000031101.12838.c6

10 August 2017

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cites work

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

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12 December 2020

Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.

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12 December 2020

Antagonists to the rescue

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12 December 2020

Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation

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12 December 2020

EDEM as an acceptor of terminally misfolded glycoproteins released from calnexin

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12 December 2020

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

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12 December 2020

Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin

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12 December 2020

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

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

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Enzyme therapy for Gaucher disease: the first 5 years.

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12 December 2020

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

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12 December 2020

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

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12 December 2020

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

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12 December 2020

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

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12 December 2020

CFTR and chaperones: processing and degradation.

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12 December 2020

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

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12 December 2020

Correction of Abnormal Cerebroside Sulfate Metabolism in Cultured Metachromatic Leukodystrophy Fibroblasts

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12 December 2020

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

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12 December 2020

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

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12 December 2020

Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function

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12 December 2020

Pharmacological chaperones: a new twist on receptor folding.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Therapeutic approaches to protein-misfolding diseases

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12 December 2020

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

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12 December 2020

Clinical benefit in Fabry patients given enzyme replacement therapy--a case series.

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12 December 2020

Influence of molecular and chemical chaperones on protein folding

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12 December 2020

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

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12 December 2020

Not such a dismal science: the economics of protein synthesis, folding, degradation and antigen processing

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12 December 2020

Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase

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12 December 2020

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

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12 December 2020

Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

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12 December 2020

Dissecting glycoprotein quality control in the secretory pathway

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12 December 2020

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

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12 December 2020

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

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12 December 2020

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

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12 December 2020

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Enzyme replacement in a canine model of Hurler syndrome

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12 December 2020

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

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12 December 2020

Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation.

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12 December 2020

Rescuing protein conformation: prospects for pharmacological therapy in cystic fibrosis

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12 December 2020

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

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12 December 2020

FROM CYTASES TO LYSOSOMES

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12 December 2020

Alpha1-antitrypsin deficiency--a model for conformational diseases

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12 December 2020

Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase

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12 December 2020

Lysosomal enzyme targeting

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12 December 2020

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

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12 December 2020

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

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12 December 2020

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

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12 December 2020

Enzyme replacement in Tay-Sachs disease

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

1 reference

12 December 2020

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

1 reference

12 December 2020

The action of molecular chaperones in the early secretory pathway

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12 December 2020

Enzyme replacement in murine mucopolysaccharidosis type VII: neuronal and glial response to beta-glucuronidase requires early initiation of enzyme replacement therapy.

1 reference

12 December 2020

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

1 reference

12 December 2020

High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease

1 reference

12 December 2020

Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency

1 reference

12 December 2020

Setting the standards: quality control in the secretory pathway

1 reference

12 December 2020

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

1 reference

12 December 2020

Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration

1 reference

12 December 2020

Mannose 6-phosphate receptors: new twists in the tale

1 reference

12 December 2020

Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources

1 reference

12 December 2020

Quantitating protein synthesis, degradation, and endogenous antigen processing

1 reference

12 December 2020

Correction of Defective Protein Kinesis of Human P-glycoprotein Mutants by Substrates and Modulators

1 reference

12 December 2020

Toward enzyme therapy for lysosomal storage diseases

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12 December 2020

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

1 reference

12 December 2020

Biodistribution, kinetics, and efficacy of highly phosphorylated and non-phosphorylated beta-glucuronidase in the murine model of mucopolysaccharidosis VII.

1 reference

12 December 2020

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Toxic proteins in neurodegenerative disease

1 reference

12 December 2020

Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study

1 reference

12 December 2020

Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts

1 reference

12 December 2020

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

1 reference

12 December 2020

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

1 reference

12 December 2020

Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months

1 reference

12 December 2020

Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

1 reference

12 December 2020

Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle

1 reference

12 December 2020

Therapeutic approaches to repair defects in deltaF508 CFTR folding and cellular targeting.

1 reference

12 December 2020

PR interval and the response to enzyme-replacement therapy for Fabry's disease

1 reference

12 December 2020

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

12 December 2020

Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase

1 reference

12 December 2020

Enzyme therapy for lysosomal acid lipase deficiency in the mouse

1 reference

12 December 2020

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

1 reference

12 December 2020

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1023/B:BOLI.0000031101.12838.C6

Identifiers

DOI

1 reference

PubMed ID

15190196

Dimensions Publication ID

10 August 2017

0 references

1 reference

PubMed ID

15190196