Journal of neurochemistry, 2011-03, Vol.116 (5), p.789-795
2011
Details
- Autor(en) / Beteiligte
- Titel
- Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches
- Ist Teil von
- Journal of neurochemistry, 2011-03, Vol.116 (5), p.789-795
- Ort / Verlag
- Oxford, UK: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2011
- Link zum Volltext
- Quelle
- Wiley Blackwell Single Titles
- Beschreibungen/Notizen
- J. Neurochem. (2011) 116, 789-795. ABSTRACT: Cholesterol is an important lipid of mammalian cells. Its unique physicochemical properties modulate membrane behavior and it serves as the precursor for steroid hormones, oxysterols and vitamin D. Cholesterol is effluxed from the late endosomes/lysosomes via the concerted action of at least two distinct proteins: Niemann-Pick C (NPC)1 and NPC2. Mutations in these two proteins manifest as NPC disease - a very rare, usually fatal, autosomal, recessive, neurovisceral, lysosomal storage disorder. In this review, we discuss the possible mechanisms of action for NPC1 and NPC2 in mediating cholesterol efflux, as well as the different therapeutic approaches being pursued for the treatment of this lipid storage disorder.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-3042eISSN: 1471-4159DOI: 10.1111/j.1471-4159.2010.06976.xTitel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3008286
- Format
- –
- Schlagworte
- acid sphingomyelinase, Animals, bis(monoacylglycerol)phosphate, Carrier Proteins - chemistry, Carrier Proteins - genetics, Carrier Proteins - metabolism, Cholesterol, Cholesterol - metabolism, cyclodextrin, Cyclodextrins - therapeutic use, endosomes, Glycoproteins - genetics, Glycoproteins - metabolism, Humans, Lipids, lysosomal acid lipase, lysosomal storage diseases, lysosomal storage organelle, Lysosomes, Mammalian cells, Membrane Glycoproteins - genetics, Membrane Glycoproteins - metabolism, Membranes, miglustat, Models, Biological, Molecular Chaperones - therapeutic use, Molecular modelling, Mutation, Mutation - genetics, Neurochemistry, Niemann-Pick disease, Niemann-Pick Disease, Type C - genetics, Niemann-Pick Disease, Type C - therapy, Niemann-Pick Disease, Type C - urine, Npc1 protein, Physicochemical properties, Proteins, Sphingomyelin Phosphodiesterase - therapeutic use, Steroid hormones, Vitamin D