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Volumn 452, Issue 6, 2008, Pages 651-665

Replacement of α-galactosidase A in Fabry disease: Effect on fibroblast cultures compared with biopsied tissues of treated patients

Author keywords

Galactosidase A deficiency; Clearance of storage lysosomes; Enzyme replacement therapy; Enzyme targeting; Persistent storage

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; LYSOSOME ENZYME;

EID: 44449096508     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00428-008-0586-9     Document Type: Article
Times cited : (27)

References (43)
  • 4
    • 33845764296 scopus 로고    scopus 로고
    • A guided tour into subcellular colocalization analysis in light microscopy
    • Bolte S, Cordelieres FP (2006) A guided tour into subcellular colocalization analysis in light microscopy. J Microsc 224:213-232
    • (2006) J Microsc , vol.224 , pp. 213-232
    • Bolte, S.1    Cordelieres, F.P.2
  • 6
    • 0034614125 scopus 로고    scopus 로고
    • Clinical features of and recent advances in therapy for Fabry disease
    • Brady RO, Schiffmann R (2000) Clinical features of and recent advances in therapy for Fabry disease. JAMA 284:2771-2775
    • (2000) JAMA , vol.284 , pp. 2771-2775
    • Brady, R.O.1    Schiffmann, R.2
  • 8
    • 13944258097 scopus 로고    scopus 로고
    • Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells
    • Bright NA, Gratian MJ, Luzio JP (2005) Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells. Curr Biol 15:360-365
    • (2005) Curr Biol , vol.15 , pp. 360-365
    • Bright, N.A.1    Gratian, M.J.2    Luzio, J.P.3
  • 10
    • 23844484627 scopus 로고    scopus 로고
    • Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase a gene in the Czech and Slovak population
    • Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, Elleder M, Karetova D, Pavlikova M, Hrebicek M (2005) Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med 83:647-654
    • (2005) J Mol Med , vol.83 , pp. 647-654
    • Dobrovolny, R.1    Dvorakova, L.2    Ledvinova, J.3    Magage, S.4    Bultas, J.5    Lubanda, J.C.6    Elleder, M.7    Karetova, D.8    Pavlikova, M.9    Hrebicek, M.10
  • 11
    • 1642455933 scopus 로고    scopus 로고
    • Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases
    • discussion 45
    • Elleder M (2003) Sequelae of storage in Fabry disease-pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 92:46-53 discussion 45
    • (2003) Acta Paediatr Suppl , vol.92 , pp. 46-53
    • Elleder, M.1
  • 16
    • 0015384891 scopus 로고
    • Determination of protein: A modification of the Lowry method that gives a linear photometric response
    • Hartree EF (1972) Determination of protein: a modification of the Lowry method that gives a linear photometric response. Anal Biochem 48:422-427
    • (1972) Anal Biochem , vol.48 , pp. 422-427
    • Hartree, E.F.1
  • 18
    • 0029089823 scopus 로고
    • Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes
    • Hille-Rehfeld A (1995) Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes. Biochim Biophys Acta 1241:177-194
    • (1995) Biochim Biophys Acta , vol.1241 , pp. 177-194
    • Hille-Rehfeld, A.1
  • 20
    • 33947201045 scopus 로고    scopus 로고
    • Distribution of alpha-galactosidase a in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase a in Fabry mice
    • Christensen EI, Zhou Q, Sorensen SS, Rasmussen AK, Jacobsen C, Feldt-Rasmussen U, Nielsen R (2007) Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice. J Am Soc Nephrol 18:698-706
    • (2007) J Am Soc Nephrol , vol.18 , pp. 698-706
    • Christensen, E.I.1    Zhou, Q.2    Sorensen, S.S.3    Rasmussen, A.K.4    Jacobsen, C.5    Feldt-Rasmussen, U.6    Nielsen, R.7
  • 21
    • 0035163539 scopus 로고    scopus 로고
    • Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase a replacement in enzyme-deficient mice
    • Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ (2001) Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 68:14-25
    • (2001) Am J Hum Genet , vol.68 , pp. 14-25
    • Ioannou, Y.A.1    Zeidner, K.M.2    Gordon, R.E.3    Desnick, R.J.4
  • 22
    • 33845343984 scopus 로고    scopus 로고
    • Sphingolipid metabolism diseases
    • Kolter T, Sandhoff K (2006) Sphingolipid metabolism diseases. Biochim Biophys Acta 1758:2057-2079
    • (2006) Biochim Biophys Acta , vol.1758 , pp. 2057-2079
    • Kolter, T.1    Sandhoff, K.2
  • 26
    • 0027418205 scopus 로고
    • Measurement of colocalization of objects in dual-color confocal images
    • Manders EMM, Verbeek FJ, Aten JA (1993) Measurement of colocalization of objects in dual-color confocal images. J Microsc-Oxford 169:375-382
    • (1993) J Microsc-Oxford , vol.169 , pp. 375-382
    • Manders, E.M.M.1    Verbeek, F.J.2    Aten, J.A.3
  • 27
    • 0019464277 scopus 로고
    • Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease
    • Mayes JS, Scheerer JB, Sifers RN, Donaldson ML (1981) Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease. Clin Chim Acta 112:247-251
    • (1981) Clin Chim Acta , vol.112 , pp. 247-251
    • Mayes, J.S.1    Scheerer, J.B.2    Sifers, R.N.3    Donaldson, M.L.4
  • 28
    • 0025294786 scopus 로고
    • Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases
    • Morimoto S, Yamamoto Y, O, Brien JS, Kishimoto Y (1990) Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. Proc Natl Acad Sci U S A 87:3493-3497
    • (1990) Proc Natl Acad Sci U S a , vol.87 , pp. 3493-3497
    • Morimoto, S.1    Yamamoto, Y.O.2    Brien, J.S.3    Kishimoto, Y.4
  • 31
    • 0041935939 scopus 로고    scopus 로고
    • from
    • Rasband WS (1997-2006). "ImageJ", from http://rsb.info.nih.gov/ ij/
    • (1997) ImageJ
    • Rasband, W.S.1
  • 32
    • 33748530605 scopus 로고    scopus 로고
    • Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients
    • Rozenfeld PA, Croxatto O, Ebner R, Fossati CA (2006) Immunofluorescence detection of globotriaosylceramide deposits in conjunctival biopsies of Fabry disease patients. Clin Exp Ophthalmol 34:689-694
    • (2006) Clin Exp Ophthalmol , vol.34 , pp. 689-694
    • Rozenfeld, P.A.1    Croxatto, O.2    Ebner, R.3    Fossati, C.A.4
  • 34
    • 33344469599 scopus 로고    scopus 로고
    • You say lipofuscin, we say ceroid: Defining autofluorescent storage material
    • Seehafer SS, Pearce DA (2006) You say lipofuscin, we say ceroid: defining autofluorescent storage material. Neurobiol Aging 27:576-588
    • (2006) Neurobiol Aging , vol.27 , pp. 576-588
    • Seehafer, S.S.1    Pearce, D.A.2
  • 37
    • 0036605666 scopus 로고    scopus 로고
    • Transcytosis of plasma macromolecules in endothelial cells: A cell biological survey
    • Simionescu M, Gafencu A, Antohe F (2002) Transcytosis of plasma macromolecules in endothelial cells: a cell biological survey. Microsc Res Tech 57:269-288
    • (2002) Microsc Res Tech , vol.57 , pp. 269-288
    • Simionescu, M.1    Gafencu, A.2    Antohe, F.3
  • 42
    • 0025782824 scopus 로고
    • Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues
    • Wenk J, Hille A, von Figura K (1991) Quantitation of Mr 46000 and Mr 300000 mannose 6-phosphate receptors in human cells and tissues. Biochem Int 23:723-731
    • (1991) Biochem Int , vol.23 , pp. 723-731
    • Wenk, J.1    Hille, A.2    Von Figura, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.