Journal
JOURNAL OF NEUROCHEMISTRY
Volume 116, Issue 5, Pages 779-788Publisher
WILEY
DOI: 10.1111/j.1471-4159.2010.07034.x
Keywords
acid sphingomyelinase; glia; neurons; Niemann Pick disease type A; sphingolipids; storage diseases
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Funding
- Ministerio de Ciencia e Innovacion [SAF 2008-01473]
- Fundacion Ramon Areces
- CARIPLO
- AIRC
- National Institutes of Health [5 R01 HD28607]
- Genzyme Corporation
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Severe neurological involvement characterizes Niemann Pick disease (NPD) type A, an inherited disorder caused by loss of function mutations in the gene encoding acid sphingomyelinase (ASM). Mice lacking ASM, which mimic NPD type A, have provided important insights into the aberrant brain phenotypes induced by ASM deficiency. For example, lipid alterations, including the accumulation of sphingolipids, affect the membranes of different subcellular compartments of neurons and glial cells, leading to anomalies in signalling pathways, neuronal polarization, calcium homeostasis, synaptic plasticity, myelin production or immune response. These findings contribute to our understanding of the overall role of sphingolipids and their metabolic enzymes in brain physiology, and pave the way to design and test new therapeutic strategies for type A NPD and other neurodegenerative disorders. Some of these have already been tested in mice lacking ASM with promising results.
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