Gaucher disease: a model disorder for biomarker discovery (Q37579908)

21 August 2017

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title

Gaucher disease: a model disorder for biomarker discovery (English)

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21 August 2017

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9

Huub C J Hoefsloot

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Chris G. de Koster

Chris G de Koster

11

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Richard R Sprenger

Richard R Sprenger

4

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Rolf G Boot

Rolf G Boot

1

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Dave Speijer

Dave Speijer

6

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author name string

Mariëlle J van Breemen

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21 August 2017

Wouter Wegdam

3

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Shreyas de Jong

5

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Carla E M Hollak

7

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Laura van Dussen

8

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21 August 2017

Huub C J Hoefsloot

9

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21 August 2017

Age K Smilde

10

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Johannes P C Vissers

12

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Johannes M F G Aerts

13

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21 August 2017

publication date

1 August 2009

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Expert Review of Proteomics

21 August 2017

published in

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volume

6

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issue

4

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21 August 2017

page(s)

411-419

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Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

21 August 2017

cites work

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Gaucher disease: complexity in a "simple" disorder

21 January 2018

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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

21 January 2018

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LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

21 January 2018

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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

21 January 2018

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Non-neuronopathic Gaucher disease due to saposin C deficiency.

21 January 2018

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Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease

21 January 2018

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Gaucher's disease: clinical features and natural history

21 January 2018

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Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 January 2018

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Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

21 January 2018

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Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy.

21 January 2018

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Plasma and metabolic abnormalities in Gaucher's disease.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

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The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

21 January 2018

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Pharmacologic chaperoning as a strategy to treat Gaucher disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 January 2018

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

21 January 2018

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Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity

21 January 2018

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Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

21 January 2018

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Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction muta

21 January 2018

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

21 January 2018

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Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis.

21 January 2018

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Increased chitotriosidase activity in serum of leprosy patients: association with bacillary leprosy.

21 January 2018

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Chitotriosidase activity in juvenile idiopathic arthritis

21 January 2018

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Intrathecal chitotriosidase and the outcome of multiple sclerosis

21 January 2018

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Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

21 January 2018

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Serum chitotriosidase activity is increased in subjects with atherosclerosis disease.

21 January 2018

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Strong induction of members of the chitinase family of proteins in atherosclerosis: chitotriosidase and human cartilage gp-39 expressed in lesion macrophages.

21 January 2018

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Chitotriosidase is the primary active chitinase in the human lung and is modulated by genotype and smoking habit.

21 January 2018

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Limitations in quantitation of the biomarker CCL18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry.

21 January 2018

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Clinically relevant therapeutic endpoints in type I Gaucher disease.

21 January 2018

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Enzyme replacement therapy for mild patients with Gaucher disease.

21 January 2018

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Gaucher disease: resetting the clinical and scientific agenda

21 January 2018

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Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity

21 January 2018

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Candidate-based proteomics in the search for biomarkers of cardiovascular disease

21 January 2018

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Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities.

21 January 2018

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Assessing the statistical validity of proteomics based biomarkers.

21 January 2018

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

21 January 2018

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

21 January 2018

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Crystal structures of allosamidin derivatives in complex with human macrophage chitinase

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1586/EPR.09.54

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21 August 2017

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