Gaucher disease: a model disorder for biomarker discovery

被引：19

作者：

Boot, Rolf G. ^{[1
]}

van Breemen, Marielle J. ^{[1
]}

Wegdam, Wouter ^{[1
]}

Sprenger, Richard R. ^{[1
]}

de Jong, Shreyas ^{[1
]}

Speijer, Dave ^{[1
]}

Hollak, Carla E. M. ^{[1
]}

van Dussen, Laura ^{[1
]}

Hoefsloot, Huub C. J. ^{[1
]}

Smilde, Age K. ^{[1
]}

de Koster, Chris G. ^{[1
]}

Vissers, Johannes P. C. ^{[1
]}

Aerts, Johannes M. F. G. ^{[1
]}

机构：

[1] Univ Amsterdam, Dept Med Biochem, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands

来源：

EXPERT REVIEW OF PROTEOMICS | 2009年 / 6卷 / 04期

关键词：

biomarker; chitotriosidase; Gaucher disease; mass spectrometry; proteomics; PLASMA CHITOTRIOSIDASE ACTIVITY; ENZYME REPLACEMENT THERAPY; LYSOSOMAL STORAGE DISORDERS; HUMAN MACROPHAGE CHITINASE; NIEMANN-PICK-DISEASE; HIGH-DOSE THERAPY; NORMAL INDIVIDUALS; MARKED ELEVATION; GLUCOCEREBROSIDASE; QUANTIFICATION;

D O I：

10.1586/EPR.09.54

中图分类号：

Q5 [生物化学];

学科分类号：

070307 [化学生物学];

摘要：

Gaucher disease is an inherited lysosomal storage disorder, characterized by massive accumulation of glucosylceramide-laden macrophages in the spleen, liver and bone marrow as a consequence of deficient activity of glucocerebrosidase. Gaucher disease has been the playground to develop new therapeutic interventions such as enzyme-replacement therapy and substrate-reduction therapy. The availability of these costly therapies has stimulated research regarding suitable biomarkers to monitor onset and progression of disease, as well as the efficacy of therapeutic intervention. Given the important role of storage cells in the pathology, various attempts have been made to identify proteins in plasma or serum reflecting the body burden of these pathological cells. in this review, the existing data regarding biomarkers for Gaucher disease, as well as the current application of biomarkers in clinical management of Gaucher patients are discussed. Moreover, the use of several modern proteomic technologies for the identification of Gaucher biomarkers is reviewed.

引用

页码：411 / 419

页数：9

共 88 条

[1]

THE OCCURRENCE OF 2 IMMUNOLOGICALLY DISTINGUISHABLE BETA-GLUCOCEREBROSIDASES IN HUMAN SPLEEN [J].

AERTS, JMFG ;

DONKERKOOPMAN, WE ;

VANDERVLIET, MK ;

JONSSON, LMV ;

GINNS, EI ;

MURRAY, GJ ;

BARRANGER, JA ;

TAGER, JM ;

SCHRAM, AW .

EUROPEAN JOURNAL OF BIOCHEMISTRY, 1985, 150 (03) :565-574

[2]

Plasma and metabolic abnormalities in Gaucher's disease [J].

Aerts, JMFG ;

Hollak, CEM .

BAILLIERES CLINICAL HAEMATOLOGY, 1997, 10 (04) :691-709

[3]

DEFICIENT ACTIVITY OF GLUCOCEREBROSIDASE IN URINE FROM PATIENTS WITH TYPE-1 GAUCHER DISEASE [J].

AERTS, JMFG ;

DONKERKOOPMAN, WE ;

KOOT, M ;

BARRANGER, JA ;

TAGER, JM ;

SCHRAM, AW .

CLINICA CHIMICA ACTA, 1986, 158 (02) :155-163

[4]

GLUCOCEREBROSIDASE, A LYSOSOMAL-ENZYME THAT DOES NOT UNDERGO OLIGOSACCHARIDE PHOSPHORYLATION [J].

AERTS, JMFG ;

SCHRAM, AW ;

STRIJLAND, A ;

VANWEELY, S ;

JONSSON, LMV ;

TAGER, JM ;

SORRELL, SH ;

GINNS, EI ;

BARRANGER, JA ;

MURRAY, GJ .

BIOCHIMICA ET BIOPHYSICA ACTA, 1988, 964 (03) :303-308

[5]

PATHOGENESIS OF LYSOSOMAL STORAGE DISORDERS AS ILLUSTRATED BY GAUCHER DISEASE [J].

AERTS, JMFG ;

VANWEELY, S ;

BOOT, R ;

HOLLAK, CEM ;

TAGER, JM .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (02) :288-291

[6]

Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity [J].

Aerts, Johannes M. ;

Ottenhoff, Roelof ;

Powlson, Andrew S. ;

Grefhorst, Aldo ;

van Eijk, Marco ;

Dubbelhuis, Peter F. ;

Aten, Jan ;

Kuipers, Folkert ;

Serlie, Mireille J. ;

Wennekes, Tom ;

Sethi, Jaswinder K. ;

O'Rahilly, Stephen ;

Overkleeft, Hermen S. .

DIABETES, 2007, 56 (05) :1341-1349

[7]

Substrate reduction therapy of glycosphingolipid storage disorders [J].

Aerts, Johannes M. F. G. ;

Hollak, Carla E. M. ;

Boot, Rolf G. ;

Groener, Johanna E. M. ;

Maas, Mario .

JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (2-3) :449-U1

[8]

Transglycosidase activity of chitotriosidase - Improved enzymatic assay for the human macrophage chitinase [J].

Aguilera, B ;

Ghauharali-van der Vlugt, K ;

Helmond, MTJ ;

Out, JMM ;

Donker-Koopman, WE ;

Groener, JEM ;

Boot, RG ;

Renkema, GH ;

van der Marel, GA ;

van Boom, JH ;

Overkleeft, HS ;

Aerts, JMFG .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (42) :40911-40916

[9]

Candidate-based proteomics in the search for biomarkers of cardiovascular disease [J].

Anderson, L .

JOURNAL OF PHYSIOLOGY-LONDON, 2005, 563 (01) :23-60

[10]

Serum chitotriosidase activity is increased in subjects with atherosclerosis disease [J].

Artieda, M ;

Cenarro, A ;

Gañán, A ;

Jericó, I ;

Gonzalvo, C ;

Casado, JM ;

Vitoria, I ;

Puzo, J ;

Pocoví, M ;

Civeira, F .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2003, 23 (09) :1645-1652

← 1 2 3 4 5 6 7 8 9 →