Acid sphingomyelinase deficiency

Santana, P., Pena, L. A., Haimovitz-Fiiedman, A., Martin, S., Green, D. R., McLougUin, M., Cordon-Cardo, C., Schuchman, E. H., Fuks, Z., and Kolesnick, R., 1996, Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell S6 189-199. 

Otterbach, B., and Stoffel, W., 1995, Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick). Cell 81 1053-1061. 

NIEMANN-PICK DISEASE ACID SPHINGOMYELINASE DEFICIENCY... 

Pavlu-Pereira H, Asfaw B, Poupetova H, Ledvinova J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novaotna Z, Chudoba D, Elleder M (2005) Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28 203-227... 

Miranda, S. R., Erlich, S., Friedrich, V. L., Jr., Gatt, S. and Schuchman, E. H. (2000). Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Gene Ther. 7, 1768-1776. 

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice a model of types A and B Niemann-Pick disease. Nat Genet 1995 10(3) 288-93. 

Schuchman, E. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inher Metabol Dis 30 (2007) 654-663. 

Schuchmann EH, Desnick RJ Niemann-Pick Diseases Type A and B Acid sphingomyelinase deficiencies, Vol. 2. New York McGraw Hill (1995) 2601-2624. 

Ng, C.G., and Griffin, D.E., Acid sphingomyelinase deficiency increases susceptibility to fatal alphavirus encephalomyelitis, J Virol, 80 (2006) 10989-10999. 

Otala, M., Pentikainen, M. O., Matikainen, T., Suomalainen, L., Hakala, J. K., Perez, G. I., Tenhunen, M., Erkkila, K., Kovanen, P., Parvinen, M. Dunkel, L. Effects of acid sphingomyelinase deficiency on male germ cell development and programmed cell death. Biol Reprod 72 (2005) 86-96. 

Niemann-Pick disease is an autosomal recessive disorder in which patients accumulate sphingomyelin and, to a lesser extenL cholesterol and other phospholipids within lyso-somes due to a deficiency of acid sphingomyelinase deficiency. While the monocyte/macrophage cell lineage is extensively affected, it is the accumulation within other cell... 

Niemann-Pick disease Acid sphingomyelinase deficiency Takahashi ei of., 1992... 

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