메뉴 건너뛰기




Volumn 49, Issue , 2015, Pages 567-588

Lipidomics in diagnosis of lipidoses

(2)  Wolf, C a   Quinn, P J b  

a INSERM   (France)
b NONE

Author keywords

Fabry; Gaucher; Lipidomics; Lipofucinosis; Sjogren Larsson Syndrome; TAY Sachs

Indexed keywords


EID: 84934876504     PISSN: 03060225     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article
Times cited : (13)

References (57)
  • 1
    • 1642544547 scopus 로고    scopus 로고
    • Studies on sulfatides by quadrupole ion-trap mass spectrometry with electrospray ionization: Structural characterization and the fragmentation processes that include an unusual internal galactose residue loss and the classical charge-remote fragmentation
    • Hsu F.F., Turk J., Studies on sulfatides by quadrupole ion-trap mass spectrometry with electrospray ionization: structural characterization and the fragmentation processes that include an unusual internal galactose residue loss and the classical charge-remote fragmentation, Journal of the American Society for Mass Spectrometry 15 (2004) 536–546.
    • (2004) Journal of the American Society for Mass Spectrometry , vol.15 , pp. 536-546
    • Hsu, F.F.1    Turk, J.2
  • 2
    • 34248536519 scopus 로고    scopus 로고
    • Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:Phosphocholine cytidylyltransfer-ase alpha
    • Kacher Y., Golan A., Pewzner-Jung Y., Futerman A.H., Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:phosphocholine cytidylyltransfer-ase alpha, Blood cells, molecules & diseases 39 (2007) 124–129.
    • (2007) Blood Cells, Molecules &Amp; Diseases , vol.39 , pp. 124-129
    • Kacher, Y.1    Golan, A.2    Pewzner-Jung, Y.3    Futerman, A.H.4
  • 3
    • 33845698287 scopus 로고    scopus 로고
    • Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
    • Kaneski C.R., Moore D.F., Ries M., Zirzow G.C., Schiffmann R., Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease, Neurology 67 (2006) 2045–2047.
    • (2006) Neurology , vol.67 , pp. 2045-2047
    • Kaneski, C.R.1    Moore, D.F.2    Ries, M.3    Zirzow, G.C.4    Schiffmann, R.5
  • 4
    • 0033987337 scopus 로고    scopus 로고
    • Functional significance of globotriaosyl ceramide in interferon-alpha(2)/type 1 interferon receptor-mediated antiviral activity
    • Khine A.A., Lingwood C.A., Functional significance of globotriaosyl ceramide in interferon-alpha(2)/type 1 interferon receptor-mediated antiviral activity, Journal of Cellular Physiology 182 (2000) 97–108.
    • (2000) Journal of Cellular Physiology , vol.182 , pp. 97-108
    • Khine, A.A.1    Lingwood, C.A.2
  • 7
    • 0035910463 scopus 로고    scopus 로고
    • The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
    • Lin L., Sohar I., Lackland H., Lobel P., The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH, The Journal of biological chemistry 276 (2001) 2249–2255.
    • (2001) The Journal of Biological Chemistry , vol.276 , pp. 2249-2255
    • Lin, L.1    Sohar, I.2    Lackland, H.3    Lobel, P.4
  • 8
    • 0029916780 scopus 로고    scopus 로고
    • Role of verotoxin receptors in pathogenesis
    • Lingwood C.A., Role of verotoxin receptors in pathogenesis, Trends Microbiol 4 (1996) 147–153.
    • (1996) Trends Microbiol , vol.4 , pp. 147-153
    • Lingwood, C.A.1
  • 9
    • 0029788513 scopus 로고    scopus 로고
    • Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: Correction of the defect in lympho-blasts by recombinant palmitoyl-protein thioesterase
    • Lu J.Y., Verkruyse L.A., Hofmann S.L., Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lympho-blasts by recombinant palmitoyl-protein thioesterase, Proceedings of the National Academy of Sciences of the United States of America 93 (1996) 10046–10050.
    • (1996) Proceedings of the National Academy of Sciences of the United States of America , vol.93 , pp. 10046-10050
    • Lu, J.Y.1    Verkruyse, L.A.2    Hofmann, S.L.3
  • 11
    • 0037372794 scopus 로고    scopus 로고
    • Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots
    • Lukacs Z., Santavuori P., Keil A., Steinfeld R., Kohlschutter A., Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots, Clinical chemistry 49 (2003) 509–511.
    • (2003) Clinical Chemistry , vol.49 , pp. 509-511
    • Lukacs, Z.1    Santavuori, P.2    Keil, A.3    Steinfeld, R.4    Kohlschutter, A.5
  • 12
    • 0028358087 scopus 로고
    • CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: Implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis
    • Maloney M.D., Lingwood C.A., CD19 has a potential CD77 (globotriaosyl ceramide)-binding site with sequence similarity to verotoxin B-subunits: implications of molecular mimicry for B cell adhesion and enterohemorrhagic Escherichia coli pathogenesis, Journal of Experimental Medicine 180 (1994) 191–201.
    • (1994) Journal of Experimental Medicine , vol.180 , pp. 191-201
    • Maloney, M.D.1    Lingwood, C.A.2
  • 13
    • 0027366926 scopus 로고
    • Apoptosis induced in Burkitt’s lymphoma cells via Gb3/CD77, a glycolipid antigen
    • Mangeney M., Lingwood C.A., Taga S., Caillou B., Tursz T., Wiels J., Apoptosis induced in Burkitt’s lymphoma cells via Gb3/CD77, a glycolipid antigen, Cancer Research 53 (1993) 5314–5319.
    • (1993) Cancer Research , vol.53 , pp. 5314-5319
    • Mangeney, M.1    Lingwood, C.A.2    Taga, S.3    Caillou, B.4    Tursz, T.5    Wiels, J.6
  • 14
    • 0037181493 scopus 로고    scopus 로고
    • Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectro-metry
    • Mills K., Johnson A., Winchester B., Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectro-metry, FEBS letters 515 (2002) 171–176.
    • (2002) FEBS Letters , vol.515 , pp. 171-176
    • Mills, K.1    Johnson, A.2    Winchester, B.3
  • 15
    • 0034935252 scopus 로고    scopus 로고
    • Selective arterial distribution of cerebral hyper-perfusion in Fabry disease
    • Moore D.F., Herscovitch P., Schiffmann R., Selective arterial distribution of cerebral hyper-perfusion in Fabry disease, Journal of Neuroimaging 11 (2001) 303–307.
    • (2001) Journal of Neuroimaging , vol.11 , pp. 303-307
    • Moore, D.F.1    Herscovitch, P.2    Schiffmann, R.3
  • 17
    • 0024259857 scopus 로고
    • The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
    • Myerowitz R., Costigan F.C., The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase, The Journal of biological chemistry 263 (1988) 18587–18589.
    • (1988) The Journal of Biological Chemistry , vol.263 , pp. 18587-18589
    • Myerowitz, R.1    Costigan, F.C.2
  • 18
    • 0037093476 scopus 로고    scopus 로고
    • Molecular patho-physiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
    • Myerowitz R., Lawson D., Mizukami H., Mi Y., Tifft C.J., Proia R.L., Molecular patho-physiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling, Human molecular genetics 11 (2002) 1343–1350.
    • (2002) Human Molecular Genetics , vol.11 , pp. 1343-1350
    • Myerowitz, R.1    Lawson, D.2    Mizukami, H.3    Mi, Y.4    Tifft, C.J.5    Proia, R.L.6
  • 19
    • 0016172389 scopus 로고
    • Human erythrocyte P and Pk blood group antigens: Identification as glycosphingolipids
    • Naiki M., Marcus D.M., Human erythrocyte P and Pk blood group antigens: identification as glycosphingolipids, Biochemical and Biophysical Research Communications 60 (1974) 1105–1111.
    • (1974) Biochemical and Biophysical Research Communications , vol.60 , pp. 1105-1111
    • Naiki, M.1    Marcus, D.M.2
  • 21
    • 0026341891 scopus 로고
    • Fast-atom-bombardment chemistry of sulfatide (3-sulfogalactosylcer-amide)
    • Ohashi Y., Nagai Y., Fast-atom-bombardment chemistry of sulfatide (3-sulfogalactosylcer-amide), Carbohydrate research 221 (1991) 235–243.
    • (1991) Carbohydrate Research , vol.221 , pp. 235-243
    • Ohashi, Y.1    Nagai, Y.2
  • 23
    • 0032743108 scopus 로고    scopus 로고
    • Role of glycosphingolipids in HIV-1 entry: Requirement of globotriosylceramide (Gb3) in CD4/CXCR4-dependent fusion
    • Puri A., Hug P., Jernigan K., Rose P., Blumenthal R., Role of glycosphingolipids in HIV-1 entry: requirement of globotriosylceramide (Gb3) in CD4/CXCR4-dependent fusion, Bioscience reports 19 (1999) 317–325.
    • (1999) Bioscience Reports , vol.19 , pp. 317-325
    • Puri, A.1    Hug, P.2    Jernigan, K.3    Rose, P.4    Blumenthal, R.5
  • 24
    • 34548426172 scopus 로고    scopus 로고
    • Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscentof human metachromatic leukodystrophy
    • Ramakrishnan H., Hedayati K.K., Lullmann-Rauch R., Wessig C., Fewou S.N., Maier H., Goebel H.H., Gieselmann V., Eckhardt M., Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscentof human metachromatic leukodystrophy, Journalof Neuroscience 27 (2007) 9482–9490.
    • (2007) Journalof Neuroscience , vol.27 , pp. 9482-9490
    • Ramakrishnan, H.1    Hedayati, K.K.2    Lullmann-Rauch, R.3    Wessig, C.4    Fewou, S.N.5    Maier, H.6    Goebel, H.H.7    Gieselmann, V.8    Eckhardt, M.9
  • 25
    • 27644456157 scopus 로고    scopus 로고
    • Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
    • Ramsay S.L., Meikle P.J., Hopwood J.J., Clements P.R., Profiling oligosaccharidurias by electrospray tandem mass spectrometry: quantifying reducing oligosaccharides, Analytical biochemistry 345 (2005) 30–46.
    • (2005) Analytical Biochemistry , vol.345 , pp. 30-46
    • Ramsay, S.L.1    Meikle, P.J.2    Hopwood, J.J.3    Clements, P.R.4
  • 29
    • 0025919757 scopus 로고
    • Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibro-blasts
    • Rizzo W.B., Craft D.A., Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibro-blasts, The Journal of clinical investigation 88 (1991) 1643–1648.
    • (1991) The Journal of Clinical Investigation , vol.88 , pp. 1643-1648
    • Rizzo, W.B.1    Craft, D.A.2
  • 30
    • 0023622336 scopus 로고
    • Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle
    • Rizzo W.B., Craft D.A., Dammann A.L., Phillips M.W., Fatty alcohol metabolism in cultured human fibroblasts. Evidence for a fatty alcohol cycle, The Journal of biological chemistry 262 (1987) 17412–17419.
    • (1987) The Journal of Biological Chemistry , vol.262 , pp. 17412-17419
    • Rizzo, W.B.1    Craft, D.A.2    Dammann, A.L.3    Phillips, M.W.4
  • 33
    • 11144298914 scopus 로고    scopus 로고
    • Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy
    • Roddy T.P., Nelson B.C., Sung C.C., Araghi S., Wilkens D., Zhang X.K., Thomas J.J., Richards S.M., Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy, Clinical chemistry 51 (2005) 237–240.
    • (2005) Clinical Chemistry , vol.51 , pp. 237-240
    • Roddy, T.P.1    Nelson, B.C.2    Sung, C.C.3    Araghi, S.4    Wilkens, D.5    Zhang, X.K.6    Thomas, J.J.7    Richards, S.M.8
  • 34
  • 36
    • 0001534522 scopus 로고
    • Action teratogene du triparanol chez l’animal
    • Roux C., Action teratogene du triparanol chez l’animal, Archives francaises de pediatrie 21 (1964) 451–464.
    • (1964) Archives Francaises De Pediatrie , vol.21 , pp. 451-464
    • Roux, C.1
  • 39
    • 33645830674 scopus 로고    scopus 로고
    • Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation
    • Shen Y., Bodary P.F., Vargas F.B., Homeister J.W., Gordon D., Ostenso K.A., Shayman J.A., Eitzman D.T., Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation, Stroke 37 (2006) 1106–1108.
    • (2006) Stroke , vol.37 , pp. 1106-1108
    • Shen, Y.1    Bodary, P.F.2    Vargas, F.B.3    Homeister, J.W.4    Gordon, D.5    Ostenso, K.A.6    Shayman, J.A.7    Eitzman, D.T.8
  • 41
    • 33644867725 scopus 로고    scopus 로고
    • The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reti-culum for a cytotoxic effect
    • Smith D.C., Sillence D.J., Falguieres T., Jarvis R.M., Johannes L., Lord J.M., Platt F.M., Roberts L.M., The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reti-culum for a cytotoxic effect, Molecular Biology of the Cell 17 (2006) 1375–1387.
    • (2006) Molecular Biology of the Cell , vol.17 , pp. 1375-1387
    • Smith, D.C.1    Sillence, D.J.2    Falguieres, T.3    Jarvis, R.M.4    Johannes, L.5    Lord, J.M.6    Platt, F.M.7    Roberts, L.M.8
  • 42
    • 0000139419 scopus 로고
    • A Newly Recognized Syndrome of Multiple Congenital Anomalies
    • Smith D.W., Lemli L., Opitz J.M., A Newly Recognized Syndrome of Multiple Congenital Anomalies, The Journal of pediatrics 64 (1964) 210–217.
    • (1964) The Journal of Pediatrics , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 43
  • 45
    • 0027377982 scopus 로고
    • Cholesterol defect in Smith-Lemli-Opitz syndrome
    • Tint G.S., Cholesterol defect in Smith-Lemli-Opitz syndrome, American Journal of Medical Genetics 47 (1993) 573–574.
    • (1993) American Journal of Medical Genetics , vol.47 , pp. 573-574
    • Tint, G.S.1
  • 46
    • 2942675199 scopus 로고    scopus 로고
    • Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes
    • Trajkovic-Bodennec S., Bodennec J., Futerman A.H., Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes, Blood cells, molecules & diseases 33 (2004) 77–82.
    • (2004) Blood Cells, Molecules &Amp; Diseases , vol.33 , pp. 77-82
    • Trajkovic-Bodennec, S.1    Bodennec, J.2    Futerman, A.H.3
  • 47
    • 19444384177 scopus 로고    scopus 로고
    • A method for profiling gangliosides in animal tissues using electrospray ionization-tandem mass spectrometry
    • Tsui Z.C., Chen Q.R., Thomas M.J., Samuel M., Cui Z., A method for profiling gangliosides in animal tissues using electrospray ionization-tandem mass spectrometry, Analytical biochemistry 341 (2005) 251–258.
    • (2005) Analytical Biochemistry , vol.341 , pp. 251-258
    • Tsui, Z.C.1    Chen, Q.R.2    Thomas, M.J.3    Samuel, M.4    Cui, Z.5
  • 49
    • 0021983721 scopus 로고
    • Quantitative analysis of brain gangliosides by high performance liquid chromatography of their perbenzoyl derivatives
    • Ullman M.D., McCluer R.H., Quantitative analysis of brain gangliosides by high performance liquid chromatography of their perbenzoyl derivatives, Journal of lipid research 26 (1985) 501–506.
    • (1985) Journal of Lipid Research , vol.26 , pp. 501-506
    • Ullman, M.D.1    Mccluer, R.H.2
  • 50
    • 0022342601 scopus 로고
    • Prenatal diagnostic techniques. Chorionic villus sampling
    • Ullman S., Nelson L.B., Jackson L.G., Prenatal diagnostic techniques. Chorionic villus sampling, Survey of ophthalmology 30 (1985) 33–40.
    • (1985) Survey of Ophthalmology , vol.30 , pp. 33-40
    • Ullman, S.1    Nelson, L.B.2    Jackson, L.G.3
  • 52
    • 0029446930 scopus 로고
    • Ganglioside extraction from erythrocytes: A comparison study
    • Wang W.Q., Gustafson A., Ganglioside extraction from erythrocytes: a comparison study, Acta Chemica Scandinavica 49 (1995) 929–936.
    • (1995) Acta Chemica Scandinavica , vol.49 , pp. 929-936
    • Wang, W.Q.1    Gustafson, A.2
  • 54
    • 0035717736 scopus 로고    scopus 로고
    • Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry
    • Whitfield P.D., Sharp P.C., Johnson D.W., Nelson P., Meikle P.J., Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry, Molecular genetics and metabolism 73 (2001) 30–37.
    • (2001) Molecular Genetics and Metabolism , vol.73 , pp. 30-37
    • Whitfield, P.D.1    Sharp, P.C.2    Johnson, D.W.3    Nelson, P.4    Meikle, P.J.5
  • 56
    • 0035964220 scopus 로고    scopus 로고
    • Pheno/genotypic correlations of neuronal ceroid lipofuscinoses
    • Wisniewski K.E., Zhong N., Philippart M., Pheno/genotypic correlations of neuronal ceroid lipofuscinoses, Neurology 57 (2001) 576–581.
    • (2001) Neurology , vol.57 , pp. 576-581
    • Wisniewski, K.E.1    Zhong, N.2    Philippart, M.3
  • 57
    • 0034919291 scopus 로고    scopus 로고
    • Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities
    • Young E.P., Worthington V.C., Jackson M., Winchester B.G., Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities, European Journal of Paediatric Neurology 5 Suppl A (2001) 193–196.
    • (2001) European Journal of Paediatric Neurology 5 Suppl A , pp. 193-196
    • Young, E.P.1    Worthington, V.C.2    Jackson, M.3    Winchester, B.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.