Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease

[1]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[2]  R. Kolesnick,et al.  The sphingomyelin pathway in tumor necrosis factor and interleukin-1 signaling , 1994, Cell.

[3]  J. Breslow,et al.  Intestinal expression of human apolipoprotein A-IV in transgenic mice fails to influence dietary lipid absorption or feeding behavior. , 1994, The Journal of clinical investigation.

[4]  Y. Hannun,et al.  The sphingomyelin cycle and the second messenger function of ceramide. , 1994, The Journal of biological chemistry.

[5]  P. Lalley,et al.  Mouse models of Niemann-Pick disease: mutation analysis and chromosomal mapping rule out the type A and B forms. , 1993, Genomics.

[6]  R. Desnick,et al.  Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. , 1992, Human gene therapy.

[7]  E. Gilboa,et al.  Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[8]  R. Desnick,et al.  Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). , 1992, Genomics.

[9]  R. Desnick,et al.  Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. , 1991, The Journal of biological chemistry.

[10]  T. Bocan,et al.  Rapid on-line determination of cholesterol distribution among plasma lipoproteins after high-performance gel filtration chromatography. , 1991, Journal of lipid research.

[11]  D. Adler,et al.  Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. , 1991, Genomics.

[12]  J. Lewis,et al.  An improved culture medium supports development of random-bred 1-cell mouse embryos in vitro. , 1989, Journal of reproduction and fertility.

[13]  M. Arima,et al.  Purification and Characterization of Neutral and Acid Sphingomyelinases from Rat Brain , 1989, Journal of neurochemistry.

[14]  A. Clarke,et al.  Germ line transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cells , 1989, Cell.

[15]  Mario R. Capecchi,et al.  Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes , 1988, Nature.

[16]  K. Mullis,et al.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. , 1988, Science.

[17]  E. Wagner,et al.  Expression of retroviral vectors in transgenic mice obtained by embryo infection. , 1987, The EMBO journal.

[18]  R. Desnick,et al.  Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. , 1981, The Journal of biological chemistry.

[19]  S. Gatt,et al.  NIEMANN PICK DISEASE: PRESENCE OF THE MAGNESIUM‐DEPENDENT SPHINGOMYELINASE IN BRAIN OF THE INFANTILE FORM OF THE DISEASE 1 , 1978, Journal of neurochemistry.

[20]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[21]  M. W. Spence,et al.  Sphingomyelinase activity at pH 7.4 in human brain and a comparison to activity at pH 5.0. , 1976, Journal of lipid research.

[22]  S. Gatt,et al.  Effect of Triton X-100 on the hydrolysis of sphingomyelin by sphingomyelinase of rat brain. , 1976, Biochemistry.

[23]  P. Fu,et al.  Enzymatic determination of total serum cholesterol. , 1974, Clinical chemistry.

[24]  E. P. Kennedy,et al.  Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. , 1967, Journal of lipid research.

[25]  R. Brady,et al.  The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. , 1966, The Journal of biological chemistry.

[26]  R. Brady,et al.  The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. , 1966, Proceedings of the National Academy of Sciences of the United States of America.

[27]  C. Stewart,et al.  Production of chimeras between embryonic stem cells and embryos. , 1993, Methods in enzymology.

[28]  C. Stewart,et al.  Simple screening procedure to detect gene targeting events in embryonic stem cells. , 1993, Methods in enzymology.

[29]  W. Stoffel,et al.  Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene. , 1992, Biological chemistry Hoppe-Seyler.

[30]  K. Sandhoff,et al.  Human acid sphingomyelinase from human urine. , 1991, Methods in enzymology.