| First Author | Kolodny EH | Year | 2000 |
| Journal | Curr Opin Hematol | Volume | 7 |
| Issue | 1 | Pages | 48-52 |
| PubMed ID | 10608504 | Mgi Jnum | J:59785 |
| Mgi Id | MGI:1352155 | Doi | 10.1097/00062752-200001000-00009 |
| Citation | Kolodny EH (2000) Niemann-Pick disease. Curr Opin Hematol 7(1):48-52 |
| abstractText | Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in types C and D, and the finding of mutations in each. Animal models of type A and type C disease are known or have been developed. These models have been utilized in therapeutic trials of bone marrow transplantation and gene transfection of stem cells and in studies of disease pathogenesis. Lysosphingomyelin has been implicated in the nervous system involvement associated with type A disease in humans and accumulations of the NPC-1 protein and apolipoprotein D have been found in murine NP-C brain. Cells from both human and murine Niemann-Pick disease type A have been studied to assess the role of acid sphingomyelinase in signal transduction pathways involving cell proliferation, differentiation, and apoptosis. |
