(Q37876354)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

review article

1 reference

title

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

2

John J Hopwood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

17 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

1003-1012

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones

1 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genetic engineering of IgG-glucuronidase fusion proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

AGT-181: expression in CHO cells and pharmacokinetics, safety, and plasma iduronidase enzyme activity in Rhesus monkeys

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Influence of caloric restriction on motor behavior, longevity, and brain lipid composition in Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Newborn screening for Krabbe disease: the New York State model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Extensive beta-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Gene therapy for lysosomal storage diseases (LSDs) in large animal models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Enzyme-replacement therapy in mucopolysaccharidosis I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genetic engineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Substrate reduction therapy in juvenile GM2 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Long-term miglustat therapy in children with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Substrate reduction therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

What are pharmacological chaperones and why are they interesting?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

CNS-directed gene therapy for lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Genistein: a natural isoflavone with a potential for treatment of genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9341-5

Enzyme replacement therapy in a mouse model of aspartylglycosaminuria

21 January 2018

1 reference

12 December 2020

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I

1 reference

12 December 2020

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy

1 reference

12 December 2020

Enzyme replacement reduces neuropathology in MPS IIIA dogs

1 reference

12 December 2020

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis

1 reference

12 December 2020

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

12 December 2020

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

1 reference

12 December 2020

Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities

1 reference

12 December 2020

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

1 reference

12 December 2020

10.1007/S10545-011-9341-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21584766%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference