메뉴 건너뛰기




Volumn 276, Issue 19, 2009, Pages 5678-5688

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

Author keywords

Chitinase; Chitotriosidase; Gaucher disease; Molecular dynamics simulation; Single nucleotide polymorphism

Indexed keywords

CHITOTRIOSIDASE; HYMECROMONE;

EID: 70349246708     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2009.07259.x     Document Type: Article
Times cited : (34)

References (45)
  • 1
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • In. Scriver, C.R. Beaudet, A.L. Sly, W.S. Valle, D. eds. pp. McGraw-Hill. New York, NY.
    • Beutler E Grabowski G (2001) Gaucher disease. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS Valle D eds pp. 3635 3668. McGraw-Hill, New York, NY.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.2
  • 2
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher's disease: Clinical features and natural history
    • Cox TM Schofield JP (1997) Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol 10, 657 689.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 657-689
    • Cox, T.M.1    Schofield, J.P.2
  • 7
    • 0031464244 scopus 로고    scopus 로고
    • Plasma and metabolic abnormalities in Gaucher's disease
    • Aerts JM Hollak CE (1997) Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol 10, 691 709.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 691-709
    • Aerts, J.M.1    Hollak, C.E.2
  • 8
    • 0742269462 scopus 로고    scopus 로고
    • Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease
    • Moller HJ, de Fost M, Aerts H, Hollak C Moestrup SK (2004) Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease. Eur J Haematol 72, 135 139.
    • (2004) Eur J Haematol , vol.72 , pp. 135-139
    • Moller, H.J.1    De Fost, M.2    Aerts, H.3    Hollak, C.4    Moestrup, S.K.5
  • 10
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
    • Hollak CE, van Weely S, van Oers MH Aerts JM (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93, 1288 1292.
    • (1994) J Clin Invest , vol.93 , pp. 1288-1292
    • Hollak, C.E.1    Van Weely, S.2    Van Oers, M.H.3    Aerts, J.M.4
  • 12
    • 4344593367 scopus 로고    scopus 로고
    • Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
    • Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM Laman JD (2004) Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 122, 359 369.
    • (2004) Am J Clin Pathol , vol.122 , pp. 359-369
    • Boven, L.A.1    Van Meurs, M.2    Boot, R.G.3    Mehta, A.4    Boon, L.5    Aerts, J.M.6    Laman, J.D.7
  • 13
    • 0028799896 scopus 로고
    • Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages
    • Boot RG, Renkema GH, Strijland A, van Zonneveld AJ Aerts JM (1995) Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. J Biol Chem 270, 26252 26256.
    • (1995) J Biol Chem , vol.270 , pp. 26252-26256
    • Boot, R.G.1    Renkema, G.H.2    Strijland, A.3    Van Zonneveld, A.J.4    Aerts, J.M.5
  • 14
    • 0028911536 scopus 로고
    • Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins
    • Renkema GH, Boot RG, Muijsers AO, Donker-Koopman WE Aerts JM (1995) Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins. J Biol Chem 270, 2198 2202.
    • (1995) J Biol Chem , vol.270 , pp. 2198-2202
    • Renkema, G.H.1    Boot, R.G.2    Muijsers, A.O.3    Donker-Koopman, W.E.4    Aerts, J.M.5
  • 16
    • 33748714980 scopus 로고    scopus 로고
    • Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
    • Ries M, Schaefer E, Luhrs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M Mengel E (2006) Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 29, 647 652.
    • (2006) J Inherit Metab Dis , vol.29 , pp. 647-652
    • Ries, M.1    Schaefer, E.2    Luhrs, T.3    Mani, L.4    Kuhn, J.5    Vanier, M.T.6    Krummenauer, F.7    Gal, A.8    Beck, M.9    Mengel, E.10
  • 17
    • 4444309233 scopus 로고    scopus 로고
    • Biochemical characterization of chitotriosidase enzyme: Comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases
    • Wajner A, Michelen K, Burin MB, Pires RF, Pereira ML, Giugliani R Coelho JC (2004) Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. Clin Biochem 37, 893 897.
    • (2004) Clin Biochem , vol.37 , pp. 893-897
    • Wajner, A.1    Michelen, K.2    Burin, M.B.3    Pires, R.F.4    Pereira, M.L.5    Giugliani, R.6    Coelho, J.C.7
  • 19
    • 33748957309 scopus 로고    scopus 로고
    • Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
    • Vedder AC, Cox-Brinkman J, Hollak CE, Linthorst GE, Groener JE, Helmond MT, Scheij S Aerts JM (2006) Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. Mol Genet Metab 89, 239 244.
    • (2006) Mol Genet Metab , vol.89 , pp. 239-244
    • Vedder, A.C.1    Cox-Brinkman, J.2    Hollak, C.E.3    Linthorst, G.E.4    Groener, J.E.5    Helmond, M.T.6    Scheij, S.7    Aerts, J.M.8
  • 20
    • 4644275790 scopus 로고    scopus 로고
    • The expanding spectrum of disorders with elevated plasma chitotriosidase activity: An update
    • Michelakakis H, Dimitriou E Labadaridis I (2004) The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update. J Inherit Metab Dis 27, 705 706.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 705-706
    • Michelakakis, H.1    Dimitriou, E.2    Labadaridis, I.3
  • 21
    • 0035152361 scopus 로고    scopus 로고
    • Clinically relevant therapeutic endpoints in type i Gaucher disease
    • Hollak CE, Maas M Aerts JM (2001) Clinically relevant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis 24 (Suppl 2 97 105.
    • (2001) J Inherit Metab Dis , vol.24 , Issue.SUPPL. 2 , pp. 97-105
    • Hollak, C.E.1    Maas, M.2    Aerts, J.M.3
  • 22
    • 0031437155 scopus 로고    scopus 로고
    • A practical approach to diagnosis and management of Gaucher's disease
    • Mistry PK Abrahamov A (1997) A practical approach to diagnosis and management of Gaucher's disease. Baillieres Clin Haematol 10, 817 838.
    • (1997) Baillieres Clin Haematol , vol.10 , pp. 817-838
    • Mistry, P.K.1    Abrahamov, A.2
  • 24
    • 33745722913 scopus 로고    scopus 로고
    • 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
    • de Fost M, Hollak CE, Groener JE, Aerts JM, Maas M, Poll LW, Wiersma MG, Haussinger D, Brett S, Brill N et al. (2006) 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. Blood 108, 830 835.
    • (2006) Blood , vol.108 , pp. 830-835
    • De Fost, M.1    Hollak, C.E.2    Groener, J.E.3    Aerts, J.M.4    Maas, M.5    Poll, L.W.6    Wiersma, M.G.7    Haussinger, D.8    Brett, S.9    Brill, N.10
  • 27
    • 34948880765 scopus 로고    scopus 로고
    • Oral maintenance clinical trial with miglustat for type i Gaucher disease: Switch from or combination with intravenous enzyme replacement
    • Elstein D, Dweck A, Attias D, Hadas-Halpern I, Zevin S, Altarescu G, Aerts JM, van Weely S Zimran A (2007) Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood 110, 2296 2301.
    • (2007) Blood , vol.110 , pp. 2296-2301
    • Elstein, D.1    Dweck, A.2    Attias, D.3    Hadas-Halpern, I.4    Zevin, S.5    Altarescu, G.6    Aerts, J.M.7    Van Weely, S.8    Zimran, A.9
  • 32
    • 34848926255 scopus 로고    scopus 로고
    • Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations - Implications for diagnosis and therapeutic monitoring
    • Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A Desnick RJ (2007) Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations - implications for diagnosis and therapeutic monitoring. Hum Mutat 28, 866 873.
    • (2007) Hum Mutat , vol.28 , pp. 866-873
    • Grace, M.E.1    Balwani, M.2    Nazarenko, I.3    Prakash-Cheng, A.4    Desnick, R.J.5
  • 33
    • 34748905249 scopus 로고    scopus 로고
    • Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity
    • Lee P, Waalen J, Crain K, Smargon A Beutler E (2007) Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol Dis 39, 353 360.
    • (2007) Blood Cells Mol Dis , vol.39 , pp. 353-360
    • Lee, P.1    Waalen, J.2    Crain, K.3    Smargon, A.4    Beutler, E.5
  • 34
    • 34249657456 scopus 로고    scopus 로고
    • Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease
    • Vissers JP, Langridge JI Aerts JM (2007) Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease. Mol Cell Proteomics 6, 755 766.
    • (2007) Mol Cell Proteomics , vol.6 , pp. 755-766
    • Vissers, J.P.1    Langridge, J.I.2    Aerts, J.M.3
  • 36
    • 0037490208 scopus 로고    scopus 로고
    • Crystal structures of allosamidin derivatives in complex with human macrophage chitinase
    • Rao FV, Houston DR, Boot RG, Aerts JM, Sakuda S van Aalten DM (2003) Crystal structures of allosamidin derivatives in complex with human macrophage chitinase. J Biol Chem 278, 20110 20116.
    • (2003) J Biol Chem , vol.278 , pp. 20110-20116
    • Rao, F.V.1    Houston, D.R.2    Boot, R.G.3    Aerts, J.M.4    Sakuda, S.5    Van Aalten, D.M.6
  • 37
    • 3242733034 scopus 로고    scopus 로고
    • 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
    • Malaguarnera L, Simpore J, Prodi DA, Angius A, Sassu A, Persico I, Barone R Musumeci S (2003) 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. Genes Immun 4, 570 574.
    • (2003) Genes Immun , vol.4 , pp. 570-574
    • Malaguarnera, L.1    Simpore, J.2    Prodi, D.A.3    Angius, A.4    Sassu, A.5    Persico, I.6    Barone, R.7    Musumeci, S.8
  • 38
    • 7444257407 scopus 로고    scopus 로고
    • Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR
    • Rodrigues MR, Sa Miranda MC Amaral O (2004) Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR. Blood Cells Mol Dis 33, 362 364.
    • (2004) Blood Cells Mol Dis , vol.33 , pp. 362-364
    • Rodrigues, M.R.1    Sa Miranda, M.C.2    Amaral, O.3
  • 41
    • 0031473847 scopus 로고    scopus 로고
    • SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
    • Guex N Peitsch MC (1997) SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18, 2714 2723.
    • (1997) Electrophoresis , vol.18 , pp. 2714-2723
    • Guex, N.1    Peitsch, M.C.2
  • 43
    • 0002775934 scopus 로고
    • Interaction models for water in relation to protein hydration
    • In. Pullman, B. ed. pp. D. Reidel. Dordrecht.
    • Berendsen HJ, Postma JP, van Gunsteren WF Hermans J (1981) Interaction models for water in relation to protein hydration. In Intermolecular Forces (Pullman B ed pp. 331 342. D. Reidel, Dordrecht.
    • (1981) Intermolecular Forces , pp. 331-342
    • Berendsen, H.J.1    Postma, J.P.2    Van Gunsteren, W.F.3    Hermans, J.4
  • 44
    • 0035789518 scopus 로고    scopus 로고
    • GROMACS 3.0: A package for molecular simulation and trajectory analysis
    • Lindahl E, Hess B van der Spoel D (2001) GROMACS 3.0: a package for molecular simulation and trajectory analysis. J Mol Model 7, 306 317.
    • (2001) J Mol Model , vol.7 , pp. 306-317
    • Lindahl, E.1    Hess, B.2    Van Der Spoel, D.3
  • 45
    • 0000388705 scopus 로고    scopus 로고
    • LINCS: A linear constraints solver for molecular simulations
    • Hess B, Bekker B, Berendsen HJ Fraaije JG (1997) LINCS: a linear constraints solver for molecular simulations. J Comput Chem 18, 1463 1472.
    • (1997) J Comput Chem , vol.18 , pp. 1463-1472
    • Hess, B.1    Bekker, B.2    Berendsen, H.J.3    Fraaije, J.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.