Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders (Q26744230)

1

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10 June 2020

Juliana I Santos

2

1 reference

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10 June 2020

Sandra Alves

3

1 reference

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10 June 2020

author name string

Maria Francisca Coutinho

1

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Juliana Inês Santos

2

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Sandra Alves

International Journal of Molecular Sciences

3

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language of work or name

English

0 references

publication date

4 July 2016

2 references

24 March 2019

22 April 2019

3 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27384562%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

17

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10 June 2020

issue

7

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Creative Commons Attribution

10 June 2020

page(s)

1065

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copyright license

2 references

24 March 2019

22 April 2019

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on focus list of Wikimedia project

ScienceSource

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cites work

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EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

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Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice

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Sphingolipid lysosomal storage disorders

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Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat

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The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation

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

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Putative biological mechanisms of efficiency of substrate reduction therapies for mucopolysaccharidoses

28 September 2017

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Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

28 September 2017

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Fabry disease, enzyme replacement therapy and the significance of antibody responses

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Substrate reduction therapies for mucopolysaccharidoses

28 September 2017

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Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

28 September 2017

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Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases

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A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders

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Stop-codon read-through for patients affected by a lysosomal storage disorder.

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Substrate reduction therapy of glycosphingolipid storage disorders.

28 September 2017

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

28 September 2017

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Long endogenous dsRNAs can induce complete gene silencing in mammalian cells and primary cultures.

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INBORN LYSOSOMAL DISEASES.

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Substrate reduction therapy in mouse models of the glycosphingolipidoses

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Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders

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Biosynthesis and degradation of mammalian glycosphingolipids

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Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

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Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase

28 September 2017

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Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.

28 September 2017

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Glucosylceramide synthase and glycosphingolipid synthesis

28 September 2017

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Treatment of Gaucher disease with an enzyme inhibitor

28 September 2017

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Ganglioside metabolism. Enzymology, Topology, and regulation

28 September 2017

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Intracellular trafficking of glycosphingolipids: role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion

28 September 2017

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N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

28 September 2017

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N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing

28 September 2017

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The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation

28 September 2017

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

28 September 2017

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Lysosomal storage diseases

28 September 2017

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Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment

28 September 2017

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Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

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31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4964441

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

31 May 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Topology of glycosphingolipid degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

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/10.3390%2FIJMS17071065

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Critical role for glycosphingolipids in Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

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/10.3390%2FIJMS17071065

Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

21 January 2018

1 reference

12 December 2020

Quantitative estimation of lysosomal storage in mucopolysaccharidoses by electron microscopy analysis

1 reference

12 December 2020

Changes in male reproductive system and mineral metabolism induced by soy isoflavones administered to rats from prenatal life until sexual maturity

1 reference

12 December 2020

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

1 reference

12 December 2020

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

1 reference

12 December 2020

Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination

1 reference

12 December 2020

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)

1 reference

12 December 2020

Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single doses, multiple doses, and food in healthy volunteers

1 reference

12 December 2020

pH-independent retrograde targeting of glycolipids to the Golgi complex

1 reference

12 December 2020

N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

1 reference

12 December 2020

FROM CYTASES TO LYSOSOMES

1 reference

12 December 2020

The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders

1 reference

12 December 2020

Fluorobenzamidrazone thrombin inhibitors: influence of fluorine on enhancing oral absorption

1 reference

12 December 2020

RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases

1 reference

12 December 2020

Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain

1 reference

12 December 2020

Biochemistry of glycosphingolipid degradation

1 reference

12 December 2020

Acute exposure to rhodamine B

1 reference

12 December 2020

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

7 January 2021

inferred from DOI database lookup

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

7 January 2021

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.3390%2FIJMS17071065

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.3390/IJMS17071065

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27384562%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27384562%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

2 references