메뉴 건너뛰기




Volumn 521, Issue 1, 2013, Pages 129-135

Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia

Author keywords

Biomarkers; Dried blood spot; Gaucher disease

Indexed keywords

CHITOTRIOSIDASE; DIPEPTIDYL CARBOXYPEPTIDASE;

EID: 84876707212     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.044     Document Type: Article
Times cited : (10)

References (38)
  • 1
    • 0038100163 scopus 로고    scopus 로고
    • Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention
    • Aerts J.M., Hollak C., Boot R., Groener A. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos. Trans. R. Soc. Lond. B Biol. Sci. 2003, 358:905-914.
    • (2003) Philos. Trans. R. Soc. Lond. B Biol. Sci. , vol.358 , pp. 905-914
    • Aerts, J.M.1    Hollak, C.2    Boot, R.3    Groener, A.4
  • 2
    • 79959803398 scopus 로고    scopus 로고
    • Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
    • Aerts J.M.F.G., et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J. Inherit. Metab. Dis. 2011, 34:605-619.
    • (2011) J. Inherit. Metab. Dis. , vol.34 , pp. 605-619
    • Aerts, J.M.F.G.1
  • 4
    • 78751579162 scopus 로고    scopus 로고
    • Laboratory and genetic evaluation of Gaucher disease
    • Bodamer O.A., Hung C. Laboratory and genetic evaluation of Gaucher disease. Wien. Med. Wochenschr. 2010, 160:600-604.
    • (2010) Wien. Med. Wochenschr. , vol.160 , pp. 600-604
    • Bodamer, O.A.1    Hung, C.2
  • 5
    • 2442491031 scopus 로고    scopus 로고
    • Correlation of surrogate markers of Gaucher disease: implications for long-term follow up of enzyme replacement therapy
    • Cabrera-Salazar M.a, O'Rourke E., Henderson N., Wessel H., Barranger J.a Correlation of surrogate markers of Gaucher disease: implications for long-term follow up of enzyme replacement therapy. Clin. Chim. Acta 2004, 344:101-107.
    • (2004) Clin. Chim. Acta , vol.344 , pp. 101-107
    • Cabrera-Salazar, M.A.1    O'Rourke, E.2    Henderson, N.3    Wessel, H.4    Barranger, J.A.5
  • 6
    • 84856344278 scopus 로고    scopus 로고
    • Gaucher disease and the synucleinopathies: refining the relationship
    • Campbell T.N., Choy F.Y.M. Gaucher disease and the synucleinopathies: refining the relationship. Orphanet J. Rare Dis. 2012, 7:12.
    • (2012) Orphanet J. Rare Dis. , vol.7 , pp. 12
    • Campbell, T.N.1    Choy, F.Y.M.2
  • 7
    • 0036155174 scopus 로고    scopus 로고
    • Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
    • Chamoles N.A., Blanco M., Gaggioli D., Casentini C. Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin. Chim. Acta 2002, 317:191-197.
    • (2002) Clin. Chim. Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 8
    • 0037409218 scopus 로고    scopus 로고
    • The angiotensin converting enzyme (ACE)
    • Coates D. The angiotensin converting enzyme (ACE). Int. J. Biochem. Cell Biol. 2003, 35:769-773.
    • (2003) Int. J. Biochem. Cell Biol. , vol.35 , pp. 769-773
    • Coates, D.1
  • 10
    • 0029041265 scopus 로고
    • Peptidyl dipeptidase A: angiotensin I-converting enzyme
    • Corvol P., Williams T.A., Soubrier F. Peptidyl dipeptidase A: angiotensin I-converting enzyme. Methods Enzymol. 1995, 248:283-305.
    • (1995) Methods Enzymol. , vol.248 , pp. 283-305
    • Corvol, P.1    Williams, T.A.2    Soubrier, F.3
  • 11
    • 0035157905 scopus 로고    scopus 로고
    • Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
    • Cox T. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J. Inherit. Metab. Dis. 2001, 24:107-123.
    • (2001) J. Inherit. Metab. Dis. , vol.24 , pp. 107-123
    • Cox, T.1
  • 12
    • 84866294957 scopus 로고    scopus 로고
    • Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
    • Daitx V.V., Mezzalira J., Goldim M.P.D.S., Coelho J.C. Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma. Clin. Biochem. 2012, 45:1233-1238.
    • (2012) Clin. Biochem. , vol.45 , pp. 1233-1238
    • Daitx, V.V.1    Mezzalira, J.2    Goldim, M.P.D.S.3    Coelho, J.C.4
  • 14
    • 33751040151 scopus 로고    scopus 로고
    • Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data
    • Elleder M. Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data. J. Inherit. Metab. Dis. 2006, 29:707-715.
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 707-715
    • Elleder, M.1
  • 15
    • 2942687937 scopus 로고    scopus 로고
    • The cell biology of lysosomal storage disorders
    • Futerman A.H., van Meer G. The cell biology of lysosomal storage disorders. Nat. Rev. Mol. Cell Biol. 2004, 5:554-565.
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 554-565
    • Futerman, A.H.1    van Meer, G.2
  • 16
    • 53049096591 scopus 로고    scopus 로고
    • Phenotype, diagnosis, and treatment of Gaucher's disease
    • Grabowski G.A. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008, 372:1263-1271.
    • (2008) Lancet , vol.372 , pp. 1263-1271
    • Grabowski, G.A.1
  • 17
    • 34848926255 scopus 로고    scopus 로고
    • Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring
    • Grace M.E., Balwani M., Nazarenko I., Prakash-Cheng A., Desnick R.J. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. Hum. Mutat. 2007, 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
  • 18
    • 39149125480 scopus 로고    scopus 로고
    • Human chitotriosidase is expressed in the eye and lacrimal gland and has an antimicrobial spectrum different from lysozyme
    • Hall A.J., Morroll S., Tighe P., Götz F., Falcone F.H. Human chitotriosidase is expressed in the eye and lacrimal gland and has an antimicrobial spectrum different from lysozyme. Microbes Infect. 2008, 10:69-78.
    • (2008) Microbes Infect. , vol.10 , pp. 69-78
    • Hall, A.J.1    Morroll, S.2    Tighe, P.3    Götz, F.4    Falcone, F.H.5
  • 19
    • 0021449898 scopus 로고
    • Automated kinetic determination of angiotensin-converting enzyme in serum
    • Harjanne A. Automated kinetic determination of angiotensin-converting enzyme in serum. Clin. Chem. 1984, 30:901-902.
    • (1984) Clin. Chem. , vol.30 , pp. 901-902
    • Harjanne, A.1
  • 20
    • 84876744496 scopus 로고    scopus 로고
    • HGNC Database, HUGO Gene Nomenclature Committee (HGNC), EMBL Outstation - Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK. Jan
    • HGNC Database, HUGO Gene Nomenclature Committee (HGNC), EMBL Outstation - Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK. Jan, 2013. URL: http://www.genenames.org.
    • (2013)
  • 21
    • 0028220472 scopus 로고
    • Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease
    • Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 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
  • 22
    • 17644422131 scopus 로고    scopus 로고
    • Gaucher disease: pathological mechanisms and modern management
    • Jmoudiak M., Futerman A.H. Gaucher disease: pathological mechanisms and modern management. Br. J. Haematol. 2005, 129:178-188.
    • (2005) Br. J. Haematol. , vol.129 , pp. 178-188
    • Jmoudiak, M.1    Futerman, A.H.2
  • 23
    • 85128450945 scopus 로고    scopus 로고
    • Human chitinases and chitinase-like proteins as indicators for inflammation and cancer
    • Kzhyshkowska J., Gratchev A., Goerdt S. Human chitinases and chitinase-like proteins as indicators for inflammation and cancer. Biomark. Insights 2007, 2:128-146.
    • (2007) Biomark. Insights , vol.2 , pp. 128-146
    • Kzhyshkowska, J.1    Gratchev, A.2    Goerdt, S.3
  • 24
    • 73749086318 scopus 로고    scopus 로고
    • Not just angiotensinases: new roles for the angiotensin-converting enzymes
    • Lambert D.W., Clarke N.E., Turner A.J. Not just angiotensinases: new roles for the angiotensin-converting enzymes. Cell Mol. Life Sci. 2010, 67:89-98.
    • (2010) Cell Mol. Life Sci. , vol.67 , pp. 89-98
    • Lambert, D.W.1    Clarke, N.E.2    Turner, A.J.3
  • 25
    • 39049121722 scopus 로고    scopus 로고
    • Current development and usefulness of biomarkers for Gaucher disease follow up
    • Maire I., Guffon N., Froissart R. Current development and usefulness of biomarkers for Gaucher disease follow up. Rev. Med. Interne 2007, 28:S187.
    • (2007) Rev. Med. Interne , vol.28
    • Maire, I.1    Guffon, N.2    Froissart, R.3
  • 26
    • 56049125463 scopus 로고    scopus 로고
    • The role of current biomarkers in the management of lysosomal storage disorders
    • Maire I., Guffon N., Piraud M., Froissart R. The role of current biomarkers in the management of lysosomal storage disorders. Clin. Ther. 2008, 30:S90-S91.
    • (2008) Clin. Ther. , vol.30
    • Maire, I.1    Guffon, N.2    Piraud, M.3    Froissart, R.4
  • 27
    • 33846083753 scopus 로고    scopus 로고
    • Chitotriosidase: the yin and yang
    • Malaguarnera L. Chitotriosidase: the yin and yang. Cell Mol. Life Sci. 2006, 63:3018-3029.
    • (2006) Cell Mol. Life Sci. , vol.63 , pp. 3018-3029
    • Malaguarnera, L.1
  • 28
    • 84876728831 scopus 로고    scopus 로고
    • in press. The role of angiotensin II in nonalcoholic steatohepatitis. Mol. Cell. Endocrinol
    • Matthew Morris, E., Fletcher, J. A, Thyfault, J.P., Scott Rector, R., in press. The role of angiotensin II in nonalcoholic steatohepatitis. Mol. Cell. Endocrinol. 1-12.
    • Matthew Morris, E.1    Fletcher, J.A.2    Thyfault, J.P.3    Scott Rector, R.4
  • 29
    • 38849113202 scopus 로고    scopus 로고
    • What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research
    • McDade T., Williams S., Snodgrass J. What a drop can do: dried blood spots as a minimally invasive method for integrating biomarkers into population-based research. Demography 2007, 44:899-925.
    • (2007) Demography , vol.44 , pp. 899-925
    • McDade, T.1    Williams, S.2    Snodgrass, J.3
  • 30
    • 27744558023 scopus 로고    scopus 로고
    • Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers
    • Michelin K., et al. Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers. Clin. Chim. Acta 2005, 362:101-109.
    • (2005) Clin. Chim. Acta , vol.362 , pp. 101-109
    • Michelin, K.1
  • 32
    • 0020538456 scopus 로고
    • Direct spectrophotometric assay for angiotensin-converting enzyme in serum
    • Ronca-Testoni S. Direct spectrophotometric assay for angiotensin-converting enzyme in serum. Clin. Chem. 1983, 29:1093-1096.
    • (1983) Clin. Chem. , vol.29 , pp. 1093-1096
    • Ronca-Testoni, S.1
  • 33
    • 79960377766 scopus 로고    scopus 로고
    • Biomarkers in Serbian patients with Gaucher disease
    • Sumarac Z., et al. Biomarkers in Serbian patients with Gaucher disease. Clin. Biochem. 2011, 44:950-954.
    • (2011) Clin. Biochem. , vol.44 , pp. 950-954
    • Sumarac, Z.1
  • 34
    • 84876712126 scopus 로고    scopus 로고
    • Evaluation of chitotriosidase in dried blood spot collected of filter paper: reference values in control subjects and patients with lysosomal storage diseases
    • Uribe A. Evaluation of chitotriosidase in dried blood spot collected of filter paper: reference values in control subjects and patients with lysosomal storage diseases. Rev. Investig. Clin. 2009, 61:23 - 23.
    • (2009) Rev. Investig. Clin. , vol.61
    • Uribe, A.1
  • 35
    • 84876706591 scopus 로고    scopus 로고
    • Chitotriosidase levels in dried blood spots: application of a microtechnique to the normal population and patients with lysosomal disorders. Clin. Biochem
    • Uribe, A., Pacheco, N., submitted for publication. Chitotriosidase levels in dried blood spots: application of a microtechnique to the normal population and patients with lysosomal disorders. Clin. Biochem. 1-13.
    • submitted for publication , pp. 1-13
    • Uribe, A.1    Pacheco, N.2
  • 36
    • 14144255733 scopus 로고    scopus 로고
    • Lysosomal storage disorders
    • Vellodi A. Lysosomal storage disorders. Br. J. Haematol. 2005, 128:413-431.
    • (2005) Br. J. Haematol. , vol.128 , pp. 413-431
    • Vellodi, A.1
  • 37
    • 19944392620 scopus 로고    scopus 로고
    • Evaluation of three biochemical markers in the monitoring of Gaucher disease
    • Vellodi A., Foo Y., Cole T.J. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J. Inherit. Metab. Dis. 2005, 28:585-592.
    • (2005) J. Inherit. Metab. Dis. , vol.28 , pp. 585-592
    • Vellodi, A.1    Foo, Y.2    Cole, T.J.3
  • 38
    • 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., et al. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. Clin. Biochem. 2004, 37:893-897.
    • (2004) Clin. Biochem. , vol.37 , pp. 893-897
    • Wajner, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.