References

Schuchman, E.H., Suchi, M., Takahashi, T., Sandhoff, K., and Desnick, R.J.: Human acid sphingomyelinase: Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J. Biol. Chem. 66:8531-8539, 1991.

Levran, O., Desnick, R.J., and Schuchman, E.H.: Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc. Natl. Acad. Sci. USA. 88:3748-3752, 1991.

Levran, O., Desnick, R.J., and Schuchman, E.H.: Niemann-Pick type B disease: Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J. Clin. Invest. 88:806-810, 1991.

Schuchman, E.H., Levran, O., Pereira, L.V., and Desnick, R.J.: Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase. Genomics, 12:197-205, 1992.

Suchi, M., Dinur, T., Desnick, R.J., Gatt, S., Pereira, L., Gilboa, E., and Schuchman, E.H.: Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: Correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc. Natl. Acad. Sci. USA., 89:3227-3231, 1992.

Levran, O., Desnick, R.J., and Schuchman, E.H.: A common missense mutation (L302P) in Ashkenazi Jewish type A Niemann-Pick disease patients. Transient expression studies demonstrate the causative nature of the two common Ashkenazi Jewish Niemann-Pick disease mutations. Blood, 80:2081-2087, 1992.

Levran, O., Desnick, R.J., and Schuchman, E.H.: Type A Niemann-Pick disease: A frame-shift mutation in the acid sphingomyelinase gene (fsP330) occurs in about 8% of Ashkenazi Jewish alleles. Hum. Mut., 2:317-319, 1993.

Horinouchi, K., Erlich, S., Perl, D., Ferlinz, K., Bisgaier, C.L., Sandhoff, K., Desnick, R.J., Stewart, C.L., and Schuchman, E.H.: Acid sphingomyelinase deficient mice: A model of Types A and B Niemann-Pick disease. Nat. Genet., 10:288-293, 1995.

Yeyati, P., Agmon, V., Fillat, C., Dagan, D., Desnick, R.J., Gatt, S., and Schuchman, E.H.: Preparative isolation of metabolically corrected Niemann-Pick disease cells for gene therapy. Evidence for bystander correction by transduced cells. Hum. Gene Ther., 6:975-983, 1995.

Miranda, S.R.P., and Schuchman, E.H. Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genetic Testing 1:13-19, 1997.

Miranda, S.R.P., Erlich, S., Visser, J.W.M., Gatt, S., Dagan, A., Friedrich, V.L. Jr., and Schuchman, E.H.: Bone marrow transplantation in acid sphingomyelinase deficient mice: Engraftment and cell migration into the brain as a function of radiation, age, and phenotype. Blood 90:444-452, 1997.

Miranda, S.R.P., Erlich, S., Friedrich, V.L. Jr., Haskins, M.E., Gatt, S., and Schuchman, E.H.: Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase deficient mice. Transplantation 65:884-892, 1998.

Erlich, S., Miranda, S.R.P., Visser, J.W.M., Dagan, A., Gatt, S., and Schuchman, E.H.: Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase deficient mice: Implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures. Blood 93:80-86, 1999.

He, X., Miranda, S.R.P., Dagan, A., Gatt, S., and Schuchman, E.H.: Overexpression of human acid sphingomyelinase in Chinese hamster ovary cells: Purification and characterization of the recombinant enzyme. Biochim. Biophys. Acta 1432:251-264, 1999.

Schuchman, E.H.: Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. Special Issue of Chemistry and Physics of Lipids 102: 179-188, 1999.

Miranda, S.R.P., He, X., Gatt, S., Dagan, A., and Schuchman, E.H.: Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological correction of the pathophysiology. FASEB J. 14:1988-1995, 2000.

Miranda, S.R.P., Erlich, S., Friedrich, V.L., Gatt, S., and Schuchman, E.H.: Treatment of newborn acid sphingomyelinase deficient mice by retroviral-mediated hematopoietic stem cell gene therapy. Gene Therapy 7:1768-1776, 2000.

Schuchman, E.H., Erlich, S., and Gatt, S.: Fluorescence-based selection of seletion of gene-corrected cells using acid sphingomyelinase as a marker. Meth. Enzy. 312:330-338, 2000.

Marathe, S., Miranda, S.R.P., Johns, A., Kuriakose, G., Williams, K.J., Schuchman, E.H., and Tabas, I.: Correction of the lysosomal storage disease, but not the secretory sphingomyelinase, in acid sphingomyelinase deficient mice. Hum. Mol. Genet. 9:1967-1976, 2000.

Dhami, R., He, X., Gordon, R.E., Elleder, M., and Schuchman, E.H.: Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Lab. Invest. 81:987-999, 2001.

Schuchman, E.H., and Desnick, R.J.: Types A and B Niemann-Pick disease: Deficiencies of acid sphingomyelinase activity. In: The Metabolic Basis of Inherited Disease 8th Ed., C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, eds., McGraw Hill, New York, 3589-3610, 2001.