Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates (Q24312107)

GOA release 2020-03-11

endochitinase activity

1 reference

GOA release 2020-03-11

Richard R Sprenger

6

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Rolf G Boot

object named as

Rolf G Boot

9

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author name string

Anton P Bussink

1

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Marri Verhoek

2

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Jocelyne Vreede

3

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Karen Ghauharali-van der Vlugt

4

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Wilma E Donker-Koopman

5

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Carla E Hollak

7

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Johannes M F G Aerts

Gaucher's disease: clinical features and natural history

8

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language of work or name

English

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publication date

October 2009

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published in

FEBS Journal

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volume

276

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page(s)

5678-88

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issue

19

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cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

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/10.1111%2FJ.1742-4658.2009.07259.X

Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Plasma and metabolic abnormalities in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Clinically relevant therapeutic endpoints in type I Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

A practical approach to diagnosis and management of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

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/10.1111%2FJ.1742-4658.2009.07259.X

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Structure of human chitotriosidase. Implications for specific inhibitor design and function of mammalian chitinase-like lectins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Crystal structures of allosamidin derivatives in complex with human macrophage chitinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Detection of chitinase activity by 2-aminobenzoic acid labeling of chito-oligosaccharides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

GROMACS 3.0: a package for molecular simulation and trajectory analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

LINCS: A linear constraint solver for molecular simulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Monitoring of Gaucher patients with a novel chitotriosidase assay

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Synthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07259.X

7 January 2021