PubMed

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. Epub 2009 Jun 14.PMID: 19647672 [PubMed - indexed for MEDLINE]Related articles

Neural cell cycle dysregulation and central nervous system diseases.

Wang W, Bu B, Xie M, Zhang M, Yu Z, Tao D.

Prog Neurobiol. 2009 Sep;89(1):1-17. Epub 2009 Feb 4. Review.PMID: 19619927 [PubMed - indexed for MEDLINE]Related articles

Neurodegeneration in Niemann-Pick Type C disease and Huntington's disease: impact of defects in membrane trafficking.

Schweitzer JK, Krivda JP, D'Souza-Schorey C.

Curr Drug Targets. 2009 Jul;10(7):653-65. Review.PMID: 19601769 [PubMed - indexed for MEDLINE]Related articles

Identification of cholesterol-regulating genes by targeted RNAi screening.

Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H.

Cell Metab. 2009 Jul;10(1):63-75.PMID: 19583955 [PubMed - indexed for MEDLINE]Related articles

Spreading the wealth: Niemann-Pick type C proteins bind and transport cholesterol.

Munkacsi AB, Pentchev PG, Sturley SL.

Cell Metab. 2009 Jul;10(1):3-4.PMID: 19583946 [PubMed - indexed for MEDLINE]Related articles

Molecular facets of sphingolipids: mediators of diseases.

Ozbayraktar FB, Ulgen KO.

Biotechnol J. 2009 Jul;4(7):1028-41. Review.PMID: 19579220 [PubMed - indexed for MEDLINE]Related articles

Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning.

Rocha N, Kuijl C, van der Kant R, Janssen L, Houben D, Janssen H, Zwart W, Neefjes J.

J Cell Biol. 2009 Jun 29;185(7):1209-25.PMID: 19564404 [PubMed - indexed for MEDLINE]Related articles

A woman in her mid 30s with a dry cough and breathlessness.

Ramadan HK, Mackinlay CI, Nicholson AG.

Thorax. 2009 Jul;64(7):644. No abstract available. PMID: 19561290 [PubMed - indexed for MEDLINE]Related articles

Update on patented cholesterol absorption inhibitors.

Chhabria MT, Mahajan BM.

Expert Opin Ther Pat. 2009 Aug;19(8):1083-107. Review.PMID: 19552506 [PubMed - indexed for MEDLINE]Related articles

Cyclodextrins promote protein aggregation posing risks for therapeutic applications.

Wang MS, Boddapati S, Sierks MR.

Biochem Biophys Res Commun. 2009 Aug 28;386(3):526-31. Epub 2009 Jun 18.PMID: 19540204 [PubMed - indexed for MEDLINE]Related articles

Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments.

Tang Y, Leao IC, Coleman EM, Broughton RS, Hildreth JE.

J Virol. 2009 Aug;83(16):7982-95. Epub 2009 May 27.PMID: 19474101 [PubMed - indexed for MEDLINE]Related articles

Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes.

Cenedella RJ.

Lipids. 2009 Jun;44(6):477-87. Epub 2009 May 14. Review.PMID: 19440746 [PubMed - indexed for MEDLINE]Related articles

The genetics of Parkinson's syndromes: a critical review.

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C.

Curr Opin Genet Dev. 2009 Jun;19(3):254-65. Epub 2009 May 4. Review.PMID: 19419854 [PubMed - indexed for MEDLINE]Related articles

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells.

Karten B, Peake KB, Vance JE.

Biochim Biophys Acta. 2009 Jul;1791(7):659-70. Epub 2009 Feb 11. Review.PMID: 19416638 [PubMed - indexed for MEDLINE]Related articles

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A.

Hum Mutat. 2009 Jul;30(7):1117-22.PMID: 19405096 [PubMed - indexed for MEDLINE]Related articlesFree article

Chemical synthesis of 3beta-sulfooxy-7beta-hydroxy-24-nor-5-cholenoic acid: an internal standard for mass spectrometric analysis of the abnormal delta5-bile acids occurring in Niemann-Pick disease.

Kakiyama G, Muto A, Shimada M, Mano N, Goto J, Hofmann AF, Iida T.

Steroids. 2009 Sep;74(9):766-72. Epub 2009 Apr 24.PMID: 19394355 [PubMed - indexed for MEDLINE]Related articles

ARF6-mediated endosome recycling reverses lipid accumulation defects in Niemann-Pick Type C disease.

Schweitzer JK, Pietrini SD, D'Souza-Schorey C.

PLoS One. 2009;4(4):e5193. Epub 2009 Apr 14.PMID: 19365558 [PubMed - indexed for MEDLINE]Related articlesFree article

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism.

Eur J Neurol. 2009 Mar;16(3):297-309. Review.PMID: 19364361 [PubMed - indexed for MEDLINE]Related articles

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D.

Neurology. 2009 Mar 24;72(12):1083-6.PMID: 19307542 [PubMed - indexed for MEDLINE]Related articles

Niemann-Pick disease type C1 presenting with psychosis in an adolescent male.

Sandu S, Jackowski-Dohrmann S, Ladner A, Haberhausen M, Bachmann C.

Eur Child Adolesc Psychiatry. 2009 Sep;18(9):583-5. Epub 2009 Mar 7.PMID: 19267177 [PubMed - indexed for MEDLINE]Related articles