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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| description | 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. |
| doi_str_mv | 10.1111/j.1471-4159.2010.06976.x |
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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.</description><identifier>ISSN: 0022-3042</identifier><identifier>EISSN: 1471-4159</identifier><identifier>DOI: 10.1111/j.1471-4159.2010.06976.x</identifier><identifier>PMID: 20807315</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>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</subject><ispartof>Journal of neurochemistry, 2011-03, Vol.116 (5), p.789-795</ispartof><rights>2011 The Authors. Journal of Neurochemistry © 2011 International Society for Neurochemistry</rights><rights>2011 The Authors. Journal of Neurochemistry © 2011 International Society for Neurochemistry.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c6226-908034a9fdf5dbdad236366b530100e22bf90a60f21edc3b33fdefcc5eb869723</citedby><cites>FETCH-LOGICAL-c6226-908034a9fdf5dbdad236366b530100e22bf90a60f21edc3b33fdefcc5eb869723</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1471-4159.2010.06976.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1471-4159.2010.06976.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,780,784,885,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20807315$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rosenbaum, Anton I</creatorcontrib><creatorcontrib>Maxfield, Frederick R</creatorcontrib><title>Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches</title><title>Journal of neurochemistry</title><addtitle>J Neurochem</addtitle><description>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.</description><subject>acid sphingomyelinase</subject><subject>Animals</subject><subject>bis(monoacylglycerol)phosphate</subject><subject>Carrier Proteins - chemistry</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - metabolism</subject><subject>Cholesterol</subject><subject>Cholesterol - metabolism</subject><subject>cyclodextrin</subject><subject>Cyclodextrins - therapeutic use</subject><subject>endosomes</subject><subject>Glycoproteins - genetics</subject><subject>Glycoproteins - metabolism</subject><subject>Humans</subject><subject>Lipids</subject><subject>lysosomal acid lipase</subject><subject>lysosomal storage diseases</subject><subject>lysosomal storage organelle</subject><subject>Lysosomes</subject><subject>Mammalian cells</subject><subject>Membrane Glycoproteins - genetics</subject><subject>Membrane Glycoproteins - metabolism</subject><subject>Membranes</subject><subject>miglustat</subject><subject>Models, Biological</subject><subject>Molecular Chaperones - therapeutic use</subject><subject>Molecular modelling</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurochemistry</subject><subject>Niemann-Pick disease</subject><subject>Niemann-Pick Disease, Type C - genetics</subject><subject>Niemann-Pick Disease, Type C - therapy</subject><subject>Niemann-Pick Disease, Type C - urine</subject><subject>Npc1 protein</subject><subject>Physicochemical properties</subject><subject>Proteins</subject><subject>Sphingomyelin Phosphodiesterase - therapeutic use</subject><subject>Steroid hormones</subject><subject>Vitamin D</subject><issn>0022-3042</issn><issn>1471-4159</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkVtv1DAQhS0EokvhL4DFC09ZfImdBIlKaMVVVUGC8mo5zqTrJYmDnUD33zNhywp4Ab_Y8nxzfMaHEMrZmuN6ulvzvOBZzlW1Fgxvma4Kvb6-RVbHwm2yYkyITLJcnJB7Ke0Y4zrX_C45EaxkheRqRT5feOjtMGQfvPtCp_0IdEMbn8AmeEb70IGbOxtpD25rB5_6RO3Q0DFMMEzednTaQrQjzJN31I5jDNZtId0nd1rbJXhws5-Sy1cvP23eZOfvX7_dvDjPnBZCZxX6kLmt2qZVTd3YRkgtta6VxKEYCFG3FbOatYJD42QtZdtA65yCusSJhTwlZwfdca57RNBUtJ0Zo-9t3JtgvfmzMvituQrfjGSsFKVGgSc3AjF8nSFNpvfJQdfZAcKcTFlUeYFe1b9JhV-P7jmSj_8id2GOA_4DQiyXBdPLw-UBcjGkFKE9mubMLCGbnVmyNEuWZgnZ_AzZXGPrw9-HPjb-ShWB5wfgu-9g_9_C5t3FZjlh_6NDf2uDsVfRJ3P5EUlMpcq5VEr-AB46v74</recordid><startdate>201103</startdate><enddate>201103</enddate><creator>Rosenbaum, Anton I</creator><creator>Maxfield, Frederick R</creator><general>Blackwell Publishing Ltd</general><scope>FBQ</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QR</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201103</creationdate><title>Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches</title><author>Rosenbaum, Anton I ; Maxfield, Frederick R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6226-908034a9fdf5dbdad236366b530100e22bf90a60f21edc3b33fdefcc5eb869723</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>acid sphingomyelinase</topic><topic>Animals</topic><topic>bis(monoacylglycerol)phosphate</topic><topic>Carrier Proteins - chemistry</topic><topic>Carrier Proteins - genetics</topic><topic>Carrier Proteins - metabolism</topic><topic>Cholesterol</topic><topic>Cholesterol - metabolism</topic><topic>cyclodextrin</topic><topic>Cyclodextrins - therapeutic use</topic><topic>endosomes</topic><topic>Glycoproteins - genetics</topic><topic>Glycoproteins - metabolism</topic><topic>Humans</topic><topic>Lipids</topic><topic>lysosomal acid lipase</topic><topic>lysosomal storage diseases</topic><topic>lysosomal storage organelle</topic><topic>Lysosomes</topic><topic>Mammalian cells</topic><topic>Membrane Glycoproteins - genetics</topic><topic>Membrane Glycoproteins - metabolism</topic><topic>Membranes</topic><topic>miglustat</topic><topic>Models, Biological</topic><topic>Molecular Chaperones - therapeutic use</topic><topic>Molecular modelling</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurochemistry</topic><topic>Niemann-Pick disease</topic><topic>Niemann-Pick Disease, Type C - genetics</topic><topic>Niemann-Pick Disease, Type C - therapy</topic><topic>Niemann-Pick Disease, Type C - urine</topic><topic>Npc1 protein</topic><topic>Physicochemical properties</topic><topic>Proteins</topic><topic>Sphingomyelin Phosphodiesterase - therapeutic use</topic><topic>Steroid hormones</topic><topic>Vitamin D</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rosenbaum, Anton I</creatorcontrib><creatorcontrib>Maxfield, Frederick R</creatorcontrib><collection>AGRIS</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Chemoreception Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of neurochemistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rosenbaum, Anton I</au><au>Maxfield, Frederick R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches</atitle><jtitle>Journal of neurochemistry</jtitle><addtitle>J Neurochem</addtitle><date>2011-03</date><risdate>2011</risdate><volume>116</volume><issue>5</issue><spage>789</spage><epage>795</epage><pages>789-795</pages><issn>0022-3042</issn><eissn>1471-4159</eissn><abstract>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.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20807315</pmid><doi>10.1111/j.1471-4159.2010.06976.x</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 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 |
| title | Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches |
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