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Items: 1 to 20 of 263

1.

Altered vitamin E status in Niemann-Pick type C disease.

Ulatowski L, Parker R, Davidson C, Yanjanin N, Kelley TJ, Corey D, Atkinson J, Porter F, Arai H, Walkley SU, Manor D.

J Lipid Res. 2011 Jul;52(7):1400-10. doi: 10.1194/jlr.M015560. Epub 2011 May 5.

2.

ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.

Boadu E, Nelson RC, Francis GA.

Biochim Biophys Acta. 2012 Mar;1821(3):396-404. doi: 10.1016/j.bbalip.2011.11.013. Epub 2011 Dec 10.

PMID:
22179027
3.

Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.

Goldman SD, Krise JP.

J Biol Chem. 2010 Feb 12;285(7):4983-94. doi: 10.1074/jbc.M109.037622. Epub 2009 Dec 10.

4.

Abnormal accumulation and recycling of glycoproteins visualized in Niemann-Pick type C cells using the chemical reporter strategy.

Mbua NE, Flanagan-Steet H, Johnson S, Wolfert MA, Boons GJ, Steet R.

Proc Natl Acad Sci U S A. 2013 Jun 18;110(25):10207-12. doi: 10.1073/pnas.1221105110. Epub 2013 Jun 3.

5.

Niemann-Pick type C disease: a QM/MM study of conformational changes in cholesterol in the NPC1(NTD) and NPC2 binding pockets.

Elghobashi-Meinhardt N.

Biochemistry. 2014 Oct 21;53(41):6603-14. doi: 10.1021/bi500548f. Epub 2014 Oct 10.

PMID:
25251378
6.

Lysosomal vitamin E accumulation in Niemann-Pick type C disease.

Yévenes LF, Klein A, Castro JF, Marín T, Leal N, Leighton F, Alvarez AR, Zanlungo S.

Biochim Biophys Acta. 2012 Feb;1822(2):150-60. doi: 10.1016/j.bbadis.2011.11.009. Epub 2011 Nov 15.

7.

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.

Lloyd-Evans E, Platt FM.

Traffic. 2010 Apr;11(4):419-28. doi: 10.1111/j.1600-0854.2010.01032.x. Epub 2010 Jan 6. Review.

8.

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

Blom TS, Linder MD, Snow K, Pihko H, Hess MW, Jokitalo E, Veckman V, Syvänen AC, Ikonen E.

Hum Mol Genet. 2003 Feb 1;12(3):257-72.

PMID:
12554680
9.

Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.

Zhang M, Sun M, Dwyer NK, Comly ME, Patel SC, Sundaram R, Hanover JA, Blanchette-Mackie EJ.

Acta Paediatr Suppl. 2003 Dec;92(443):63-73; discussion 45.

PMID:
14989468
10.

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H.

Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.

11.

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin.

Vance JE, Karten B.

J Lipid Res. 2014 Aug;55(8):1609-21. doi: 10.1194/jlr.R047837. Epub 2014 Mar 24. Review.

12.

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells.

Rosenbaum AI, Zhang G, Warren JD, Maxfield FR.

Proc Natl Acad Sci U S A. 2010 Mar 23;107(12):5477-82. doi: 10.1073/pnas.0914309107. Epub 2010 Mar 8.

13.

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.

Formichi P, Battisti C, De Santi MM, Guazzo R, Tripodi SA, Radi E, Rossi B, Tarquini E, Federico A.

J Cell Physiol. 2018 Jan;233(1):663-672. doi: 10.1002/jcp.25926. Epub 2017 May 19.

PMID:
28332184
14.

Quantification of age-related changes of α-tocopherol in lysosomal membranes in murine tissues and human fibroblasts.

König J, Besoke F, Stuetz W, Malarski A, Jahreis G, Grune T, Höhn A.

Biofactors. 2016 May;42(3):307-15. doi: 10.1002/biof.1274. Epub 2016 Apr 20.

PMID:
27095633
15.

Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells.

Abi-Mosleh L, Infante RE, Radhakrishnan A, Goldstein JL, Brown MS.

Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19316-21. doi: 10.1073/pnas.0910916106. Epub 2009 Nov 2.

16.

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K.

Am J Hum Genet. 2001 Jun;68(6):1361-72. Epub 2001 May 9.

17.

Niemann-Pick Disease Type C: from molecule to clinic.

Tang Y, Li H, Liu JP.

Clin Exp Pharmacol Physiol. 2010 Jan;37(1):132-40. doi: 10.1111/j.1440-1681.2009.05235.x. Epub 2009 Jun 29. Review.

PMID:
19566836
18.

Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.

Roszell BR, Tao JQ, Yu KJ, Gao L, Huang S, Ning Y, Feinstein SI, Vite CH, Bates SR.

PLoS One. 2013 Jul 2;8(7):e67084. doi: 10.1371/journal.pone.0067084. Print 2013.

19.

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

20.

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.

Chikh K, Vey S, Simonot C, Vanier MT, Millat G.

Mol Genet Metab. 2004 Nov;83(3):220-30.

PMID:
15542393

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