BACKGROUND Niemann-Pick Type C (NPC) disease is a neurodegenerative disease that is characterized by the accumulation of cholesterol and glycosphingolipids in the late endocytic pathway. The majority of NPC cases are due to mutations in the NPC1 gene. The precise function of this gene is not yet known. METHODOLOGY/PRINCIPAL FINDINGS Using cDNA microarrays, we analyzed the genome-wide expressi...

If A is a unital weak-∗ closed subalgebra of a multiplier algebra on a reproducing kernel Hilbert space which has property A1(1), then the cyclic invariant subspaces provide an Nevanlinna-Pick (NP) family of kernels. This yields an NP interpolation theorem for a wide class of operator algebras. In particular, it applies to many kernel spaces over the unit disk including the Bergman space. We al...

Niemann Pick disease (NPD) is a lysosomal storage disease caused by the loss of acid sphingomyelinase (ASMase) that features neurodegeneration and liver disease. Since ASMase knockout mice models NPD and our previous findings revealed that ASMase activates cathepsins B/D (CtsB/D), our aim was to investigate the expression and processing of CtsB/D in hepatic stellate cells (HSC) from ASMase null...

Niemann-Pick disease type C (NPC) was demonstrated in two successive pregnancies by strongly reduced activity of sphingomyelinase in amniotic fluid cells. By contrast, chorionic villi from the first pregnancy had shown normal sphingomyelinase activity. The prenatal diagnosis of NPC in the two fetuses was confirmed, after termination of the pregnancies, by (phospho)lipid analyses of the fetal li...