Niemann-Pick disease.
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.
Kolodny
E H
EH
New York University School of Medicine, Department of Neurology, New York 10016, USA.
D000818:Animals; D002352:Carrier Proteins; D008078:Cholesterol, LDL / Q000502:physiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000145:classification / Q000473:pathology* / Q000628:therapy; D011506:Proteins / Q000235:genetics / Q000502:physiology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D013109:Sphingomyelins / Q000502:physiology
D002352:Carrier Proteins; D008078:Cholesterol, LDL; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D011506:Proteins; D013109:Sphingomyelins; D013108:Sphingomyelin Phosphodiesterase