Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

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...

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Veröffentlicht in:	Journal of neurochemistry 2011-03, Vol.116 (5), p.789-795
Hauptverfasser:	Rosenbaum, Anton I, Maxfield, Frederick R
Format:	Artikel
Sprache:	eng
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
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