-
1
-
-
0001745899
-
Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies
-
McGraw-Hill, New York, B.A.L., C.R. Scriver, W.S. Sly, D. Valle (Eds.)
-
Schuchman E.H.a.D., R.J. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. The Metabolic and Molecular Basis of Inherited Disease 2001, 3589-3610. McGraw-Hill, New York. B.A.L., C.R. Scriver, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3589-3610
-
-
Schuchman, E.1
Desnick, R.J.2
-
2
-
-
0020658595
-
Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen
-
Vanier M.T. Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. Biochim. Biophys. Acta 1983, 750:178-184.
-
(1983)
Biochim. Biophys. Acta
, vol.750
, pp. 178-184
-
-
Vanier, M.T.1
-
3
-
-
0032934036
-
Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B
-
Rodriguez-Lafrasse C., Vanier M.T. Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B. Neurochem. Res. 1999, 24:199-205.
-
(1999)
Neurochem. Res.
, vol.24
, pp. 199-205
-
-
Rodriguez-Lafrasse, C.1
Vanier, M.T.2
-
4
-
-
3242707891
-
Lipid abnormalities in children with types A and B Niemann Pick disease
-
McGovern M.M., Pohl-Worgall T., Deckelbaum R.J., Simpson W., Mendelson D., Desnick R.J., Schuchman E.H., Wasserstein M.P. Lipid abnormalities in children with types A and B Niemann Pick disease. J. Pediatr. 2004, 145:77-81.
-
(2004)
J. Pediatr.
, vol.145
, pp. 77-81
-
-
McGovern, M.M.1
Pohl-Worgall, T.2
Deckelbaum, R.J.3
Simpson, W.4
Mendelson, D.5
Desnick, R.J.6
Schuchman, E.H.7
Wasserstein, M.P.8
-
5
-
-
66049162131
-
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease
-
Galbiati F., Givogri M.I., Cantuti L., Rosas A.L., Cao H., van Breemen R., Bongarzone E.R. Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. J. Neurosci. Res. 2009, 87:1748-1759.
-
(2009)
J. Neurosci. Res.
, vol.87
, pp. 1748-1759
-
-
Galbiati, F.1
Givogri, M.I.2
Cantuti, L.3
Rosas, A.L.4
Cao, H.5
van Breemen, R.6
Bongarzone, E.R.7
-
6
-
-
84875237741
-
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease
-
Chuang W.L., Pacheco J., Zhang X.K., Martin M.M., Biski C.K., Keutzer J.M., Wenger D.A., Caggana M., Orsini J.J. Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. Clin. Chim. Acta 2013, 419:73-76.
-
(2013)
Clin. Chim. Acta
, vol.419
, pp. 73-76
-
-
Chuang, W.L.1
Pacheco, J.2
Zhang, X.K.3
Martin, M.M.4
Biski, C.K.5
Keutzer, J.M.6
Wenger, D.A.7
Caggana, M.8
Orsini, J.J.9
-
7
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts J.M., Groener J.E., Kuiper S., Donker-Koopman W.E., Strijland A., Ottenhoff R., van Roomen C., Mirzaian M., Wijburg F.A., Linthorst G.E., Vedder A.C., Rombach S.M., Cox-Brinkman J., Somerharju P., Boot R.G., Hollak C.E., Brady R.O., Poorthuis B.J. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 2008, 105:2812-2817.
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
Donker-Koopman, W.E.4
Strijland, A.5
Ottenhoff, R.6
van Roomen, C.7
Mirzaian, M.8
Wijburg, F.A.9
Linthorst, G.E.10
Vedder, A.C.11
Rombach, S.M.12
Cox-Brinkman, J.13
Somerharju, P.14
Boot, R.G.15
Hollak, C.E.16
Brady, R.O.17
Poorthuis, B.J.18
-
8
-
-
80054841258
-
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
-
Dekker N., van Dussen L., Hollak C.E., Overkleeft H., Scheij S., Ghauharali K., van Breemen M.J., Ferraz M.J., Groener J.E., Maas M., Wijburg F.A., Speijer D., Tylki-Szymanska A., Mistry P.K., Boot R.G., Aerts J.M. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118:e118-e127.
-
(2011)
Blood
, vol.118
-
-
Dekker, N.1
van Dussen, L.2
Hollak, C.E.3
Overkleeft, H.4
Scheij, S.5
Ghauharali, K.6
van Breemen, M.J.7
Ferraz, M.J.8
Groener, J.E.9
Maas, M.10
Wijburg, F.A.11
Speijer, D.12
Tylki-Szymanska, A.13
Mistry, P.K.14
Boot, R.G.15
Aerts, J.M.16
-
9
-
-
54049125089
-
Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry
-
Zhang X.K., Elbin C.S., Chuang W.L., Cooper S.K., Marashio C.A., Beauregard C., Keutzer J.M. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem. 2008, 54:1725-1728.
-
(2008)
Clin. Chem.
, vol.54
, pp. 1725-1728
-
-
Zhang, X.K.1
Elbin, C.S.2
Chuang, W.L.3
Cooper, S.K.4
Marashio, C.A.5
Beauregard, C.6
Keutzer, J.M.7
-
10
-
-
0035876022
-
An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease
-
He X., Chen F., Gatt S., Schuchman E.H. An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease. Anal. Biochem. 2001, 293:204-211.
-
(2001)
Anal. Biochem.
, vol.293
, pp. 204-211
-
-
He, X.1
Chen, F.2
Gatt, S.3
Schuchman, E.H.4
-
11
-
-
0036629206
-
A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism
-
He X., Chen F., McGovern M.M., Schuchman E.H. A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism. Anal. Biochem. 2002, 306:115-123.
-
(2002)
Anal. Biochem.
, vol.306
, pp. 115-123
-
-
He, X.1
Chen, F.2
McGovern, M.M.3
Schuchman, E.H.4
-
12
-
-
36749072778
-
The multi-functional role of sphingosylphosphorylcholine
-
Nixon G.F., Mathieson F.A., Hunter I. The multi-functional role of sphingosylphosphorylcholine. Prog. Lipid Res. 2008, 47:62-75.
-
(2008)
Prog. Lipid Res.
, vol.47
, pp. 62-75
-
-
Nixon, G.F.1
Mathieson, F.A.2
Hunter, I.3
-
13
-
-
0029931278
-
Abnormal expression of sphingomyelin acylase in atopic dermatitis: an etiologic factor for ceramide deficiency?
-
Murata Y., Ogata J., Higaki Y., Kawashima M., Yada Y., Higuchi K., Tsuchiya T., Kawainami S., Imokawa G. Abnormal expression of sphingomyelin acylase in atopic dermatitis: an etiologic factor for ceramide deficiency?. J. Invest. Dermatol. 1996, 106:1242-1249.
-
(1996)
J. Invest. Dermatol.
, vol.106
, pp. 1242-1249
-
-
Murata, Y.1
Ogata, J.2
Higaki, Y.3
Kawashima, M.4
Yada, Y.5
Higuchi, K.6
Tsuchiya, T.7
Kawainami, S.8
Imokawa, G.9
-
14
-
-
0033828399
-
High-expression of sphingomyelin deacylase is an important determinant of ceramide deficiency leading to barrier disruption in atopic dermatitis
-
Hara J., Higuchi K., Okamoto R., Kawashima M., Imokawa G. High-expression of sphingomyelin deacylase is an important determinant of ceramide deficiency leading to barrier disruption in atopic dermatitis. J. Invest. Dermatol. 2000, 115:406-413.
-
(2000)
J. Invest. Dermatol.
, vol.115
, pp. 406-413
-
-
Hara, J.1
Higuchi, K.2
Okamoto, R.3
Kawashima, M.4
Imokawa, G.5
-
15
-
-
0014325150
-
Enzymic synthesis of sphingosylphosphorylcholine
-
Fujino Y., Negishi T., Ito S. Enzymic synthesis of sphingosylphosphorylcholine. Biochem. J. 1968, 109:310-311.
-
(1968)
Biochem. J.
, vol.109
, pp. 310-311
-
-
Fujino, Y.1
Negishi, T.2
Ito, S.3
-
16
-
-
0017687258
-
The isolation and characterization of sphingomyelinase from human placental tissue
-
Pentchev P.G., Brady R.O., Gal A.E., Hibbert S.R. The isolation and characterization of sphingomyelinase from human placental tissue. Biochim. Biophys. Acta 1977, 488:312-321.
-
(1977)
Biochim. Biophys. Acta
, vol.488
, pp. 312-321
-
-
Pentchev, P.G.1
Brady, R.O.2
Gal, A.E.3
Hibbert, S.R.4
-
17
-
-
0020317596
-
Acid sphingomyelinase of human brain: purification to homogeneity
-
Yamanaka T., Suzuki K. Acid sphingomyelinase of human brain: purification to homogeneity. J. Neurochem. 1982, 38:1753-1764.
-
(1982)
J. Neurochem.
, vol.38
, pp. 1753-1764
-
-
Yamanaka, T.1
Suzuki, K.2
-
18
-
-
0023574186
-
Acid sphingomyelinase from human urine: purification and characterization
-
Quintern L.E., Weitz G., Nehrkorn H., Tager J.M., Schram A.W., Sandhoff K. Acid sphingomyelinase from human urine: purification and characterization. Biochim. Biophys. Acta 1987, 922:323-336.
-
(1987)
Biochim. Biophys. Acta
, vol.922
, pp. 323-336
-
-
Quintern, L.E.1
Weitz, G.2
Nehrkorn, H.3
Tager, J.M.4
Schram, A.W.5
Sandhoff, K.6
-
19
-
-
0037131366
-
Identification of human plasma lysophospholipase D, a lysophosphatidic acid-producing enzyme, as autotaxin, a multifunctional phosphodiesterase
-
Tokumura A., Majima E., Kariya Y., Tominaga K., Kogure K., Yasuda K., Fukuzawa K. Identification of human plasma lysophospholipase D, a lysophosphatidic acid-producing enzyme, as autotaxin, a multifunctional phosphodiesterase. J. Biol. Chem. 2002, 277:39436-39442.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 39436-39442
-
-
Tokumura, A.1
Majima, E.2
Kariya, Y.3
Tominaga, K.4
Kogure, K.5
Yasuda, K.6
Fukuzawa, K.7
-
20
-
-
0141593615
-
Autotaxin hydrolyzes sphingosylphosphorylcholine to produce the regulator of migration, sphingosine-1-phosphate
-
Clair T., Aoki J., Koh E., Bandle R.W., Nam S.W., Ptaszynska M.M., Mills G.B., Schiffmann E., Liotta L.A., Stracke M.L. Autotaxin hydrolyzes sphingosylphosphorylcholine to produce the regulator of migration, sphingosine-1-phosphate. Cancer Res. 2003, 63:5446-5453.
-
(2003)
Cancer Res.
, vol.63
, pp. 5446-5453
-
-
Clair, T.1
Aoki, J.2
Koh, E.3
Bandle, R.W.4
Nam, S.W.5
Ptaszynska, M.M.6
Mills, G.B.7
Schiffmann, E.8
Liotta, L.A.9
Stracke, M.L.10
-
21
-
-
0036387220
-
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
-
Orvisky E., Park J.K., LaMarca M.E., Ginns E.I., Martin B.M., Tayebi N., Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol. Genet. Metab. 2002, 76:262-270.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 262-270
-
-
Orvisky, E.1
Park, J.K.2
LaMarca, M.E.3
Ginns, E.I.4
Martin, B.M.5
Tayebi, N.6
Sidransky, E.7
-
22
-
-
0020320060
-
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
-
Nilsson O., Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J. Neurochem. 1982, 39:709-718.
-
(1982)
J. Neurochem.
, vol.39
, pp. 709-718
-
-
Nilsson, O.1
Svennerholm, L.2
-
23
-
-
0034642157
-
Activation of phosphatidylinositol-specific phospholipase C by HDL-associated lysosphingolipid. Involvement in mitogenesis but not in cholesterol efflux
-
Nofer J.R., Fobker M., Hobbel G., Voss R., Wolinska I., Tepel M., Zidek W., Junker R., Seedorf U., von Eckardstein A., Assmann G., Walter M. Activation of phosphatidylinositol-specific phospholipase C by HDL-associated lysosphingolipid. Involvement in mitogenesis but not in cholesterol efflux. Biochemistry 2000, 39:15199-15207.
-
(2000)
Biochemistry
, vol.39
, pp. 15199-15207
-
-
Nofer, J.R.1
Fobker, M.2
Hobbel, G.3
Voss, R.4
Wolinska, I.5
Tepel, M.6
Zidek, W.7
Junker, R.8
Seedorf, U.9
von Eckardstein, A.10
Assmann, G.11
Walter, M.12
|