Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
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Kanfer, J.N., Young, O.M., Shapiro, D. & Brady, R.O. The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. J. biol. Chem. 241, 1081–1084 (1966).
Brady, R.O., Kanfer, J.N., Mock, M.B. & Fredrickson, D.S. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. natn. Acad. Sci. U.S.A. 55, 366–369 (1966).
Schneider, P.B. & Kennedy, E.P. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J. Lipid Res. 8, 202–209 (1967).
Schuchman, E.H. & Desnick, R.J. Niemann-Pick disease Types A and B:Acid sphingomyelinase deficiencies. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. R., Beaudet, A.L., Sly, W.S.& Valle, D.) 2601–2624 (McGraw-Hill, New York, 1994).
Kolesnick, R. & Golde, D.W. The sphingomyelin pathway in tumor necrosis factor and interleukin-1 signaling. Cell 77, 325–328 (1994).
Hannun, Y.A. The sphingomyelin cycle and the second messenger function of ceramide. J. biol. Chem. 269, 3125–3128 (1994).
Rao, B.G. & Spence, M.W. Sphingomyelinase activity at pH 7. 4 in human brain and a comparison to activity at pH 5.0. J. Lipid Res. 17, 506–575 (1976).
Yedger, S. & Gatt, S. Effect of Triton X-100 on the hydrolysis of sphingomyelin by sphingomyelinase of rat brain. Biochemistry 15, 2570–2573 (1976).
Gatt, S., Dinur, T. & Kopolvic, J. Niemann-Pick disease: Presence of the magnesium-dependent sphingomyelinase in brain of the infantile form of the disease. J. Neurochem. 31, 547–550 (1978).
Maruyama, E. & Arima, M. Purification and characterization of neutral and acid sphingomyelinases from rat brain. J. Neurochem. 52, 611–618 (1989).
Schuchman, E.H., Suchi, M., Takahashi, T., Sandhoff, K. & Desnick, R.J. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced RNAs. J. biol. Chem. 66, 8531–8539 (1991).
Schuchman, E.H., Levran, O. & Desnick, R.J. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase. Genomics 12, 197–205 (1992).
Newrzella, D. & Stoffel, W. Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene. Biol. chem. Hoppe-Seyler 373, 1233–1236 (1992).
Pereira, L., Desnick, R.J., Adler, D., Disteche, C.M. & Schuchman, E.H. Regional assignment of the human acid sphingomyelinase gene by PCR analysis of somatic cell hybrids and in situ hybridization to 11 p15.1–p15.4. Genomics 9, 229–234 (1991).
Horinouchi, K., Sakiyama, T., Pereira, L., Lalley, P.A. & Schuchman, E.H. Mouse models of Niemann-Pickdisease: mutation analysis and chromosomal mapping rule out the type A and B forms. Genomics 18, 450–451 (1993).
Suchi, M. et al. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: Correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc. natn. Acad. Sci. U.S.A. 89, 3227–3231 (1992).
Dinur, T. et al. Toward gene therapy for Niemann-Pick disease (NPD): Separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. Hum. gene Ther. 3, 633–639 (1992).
Mansour, S.L., Thomas, K.R. & Capecchi, M.R. Disruption of the proto-oncogene int-2 mouse embryo-derived stem cells: A general strategy for targeting mutations to non-selectable genes. Nature 336, 348–352 (1988).
Saiki, R.K. . et al. Primer directed amplification of DNA with a thermostable DNA polymerase. Science 239, 487–491 (1988).
Sanger, F., Nicklen, J. & Coulson, A.R. DNA sequencing with chain terminating inhibitors. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
Thompson, S., Clarke, A.R., Pow, A.M., Hooper, M.L. & Melton, D.W. Germ line transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cells. Cell 56, 313–321 (1989).
Stewart, C., Schuetz, S., Vanek, M. & Wagner, E. Expression of retroviral vectors in transgenic mice obtained by embryo infection. EMBO J. 6, 383–388 (1987).
Kontgen, F. & Stewart, C. A simple screening procedure to detect gene targeting events in embryonic stem cells. Meth. Enzym. 225, 878–890 (1993).
Sambrook, J., Fritsch, E.F. & Maniatis, T., Molecular Cloning: A laboratory manual. (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989).
Stewart, C.L. Production of chimeras between embryonic stem cells and embryos. Meth. Enzym. 225, 825–855 (1993).
Chatot, C.L., Ziomek, C.A., Bavister, B.D., Lewis, J.L. & Torres, I. An improved culture medium supports development of random-bred 1-cell mouse embryos in vitro. J. Reprod. Fert. 86, 679–688 (1989).
Quintern, L.E. & Sandhoff, K. Human acid sphingomyelinase from human urine. Meth. Enzym. 197, 536–540 (1991).
Bishop, D.F. & Desnick, R.J. Affinity purification of α-galactosidase A from human spleen, placenta and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme and comparison of other forms. J. biol. Chem. 255, 1307–1316 (1981).
Kieft, K.A., Bocan, T.M.A. & Kraues, B.R. Rapid on-line determination of cholesterol distribution among plasma lipoproteins after high-performance gel-filtration chromatography. J. Lipid Res. 32, 859–866 (1991).
Aalto-Setala, K. et al. Intestinal expression of human apolipoprotein A-IV in transgenic mice fails to influence dietary lipid absorption or feeding behavior. J. clin. Invest. 93, 1776–1786 (1994).