Article
Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.
Biochemical and biophysical research communications - 30 Sept 2011
Parra Julio, Klein Andrés D, Castro Juan, Morales María Gabriela, Mosqueira Matías, Valencia Ilse, Cortés Victor, Rigotti Attilio, Zanlungo Silvana
Abstract excerpt
Niemann-Pick type C (NPC) disease is an autosomal recessive neurovisceral lipid storage disorder. The affected genes are NPC1 and NPC2. Mutations in either gene lead to intracellular cholesterol accumulation. There are three forms of the disease, which are categorized based on the onset and severity of the disease: the infantile form, in which the liver and spleen are severely affected, the juvenile form, in...
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