Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 123

1.

Structure-activity relationships of oxysterol-derived pharmacological chaperones for Niemann-Pick type C1 protein.

Ohgane K, Karaki F, Noguchi-Yachide T, Dodo K, Hashimoto Y.

Bioorg Med Chem Lett. 2014 Aug 1;24(15):3480-5. doi: 10.1016/j.bmcl.2014.05.064. Epub 2014 Jun 2.

PMID:
24928400
2.

Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site.

Ohgane K, Karaki F, Dodo K, Hashimoto Y.

Chem Biol. 2013 Mar 21;20(3):391-402. doi: 10.1016/j.chembiol.2013.02.009.

3.

Phenanthridin-6-one derivatives as the first class of non-steroidal pharmacological chaperones for Niemann-Pick disease type C1 protein.

Fukuda H, Karaki F, Dodo K, Noguchi-Yachide T, Ishikawa M, Hashimoto Y, Ohgane K.

Bioorg Med Chem Lett. 2017 Jun 15;27(12):2781-2787. doi: 10.1016/j.bmcl.2017.04.062. Epub 2017 Apr 22.

PMID:
28465104
4.

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.

Gelsthorpe ME, Baumann N, Millard E, Gale SE, Langmade SJ, Schaffer JE, Ory DS.

J Biol Chem. 2008 Mar 28;283(13):8229-36. doi: 10.1074/jbc.M708735200. Epub 2008 Jan 23.

5.

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.

Pipalia NH, Subramanian K, Mao S, Ralph H, Hutt DM, Scott SM, Balch WE, Maxfield FR.

J Lipid Res. 2017 Apr;58(4):695-708. doi: 10.1194/jlr.M072140. Epub 2017 Feb 13. Erratum in: J Lipid Res. 2017 Sep;58(9):1932.

PMID:
28193631
6.

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.

Rauniyar N, Subramanian K, Lavallée-Adam M, Martínez-Bartolomé S, Balch WE, Yates JR 3rd.

Mol Cell Proteomics. 2015 Jul;14(7):1734-49. doi: 10.1074/mcp.M114.045609. Epub 2015 Apr 14.

7.

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.

Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS.

J Neurosci. 2015 May 27;35(21):8091-106. doi: 10.1523/JNEUROSCI.4173-14.2015.

8.

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G.

Hum Genet. 2001 Jul;109(1):24-32.

PMID:
11479732
9.

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.

10.

The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol.

Millard EE, Gale SE, Dudley N, Zhang J, Schaffer JE, Ory DS.

J Biol Chem. 2005 Aug 5;280(31):28581-90. Epub 2005 May 20.

11.

Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.

Strauss JF 3rd, Liu P, Christenson LK, Watari H.

Steroids. 2002 Nov;67(12):947-51.

PMID:
12398991
12.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Millat G, Marçais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT.

Am J Hum Genet. 2001 Jun;68(6):1373-85. Epub 2001 May 1.

13.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Maue RA, Burgess RW, Wang B, Wooley CM, Seburn KL, Vanier MT, Rogers MA, Chang CC, Chang TY, Harris BT, Graber DJ, Penatti CA, Porter DM, Szwergold BS, Henderson LP, Totenhagen JW, Trouard TP, Borbon IA, Erickson RP.

Hum Mol Genet. 2012 Feb 15;21(4):730-50. doi: 10.1093/hmg/ddr505. Epub 2011 Nov 2.

14.

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
15.

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts.

Pipalia NH, Cosner CC, Huang A, Chatterjee A, Bourbon P, Farley N, Helquist P, Wiest O, Maxfield FR.

Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5620-5. doi: 10.1073/pnas.1014890108. Epub 2011 Mar 21.

16.

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K.

Hum Mutat. 2003 Oct;22(4):313-25.

PMID:
12955717
17.

Ryanodine receptor antagonists adapt NPC1 proteostasis to ameliorate lipid storage in Niemann-Pick type C disease fibroblasts.

Yu T, Chung C, Shen D, Xu H, Lieberman AP.

Hum Mol Genet. 2012 Jul 15;21(14):3205-14. doi: 10.1093/hmg/dds145. Epub 2012 Apr 14.

18.
19.

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.

Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.

Hum Mol Genet. 2013 Jan 1;22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.

PMID:
23010472
20.

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.

Watari H, Blanchette-Mackie EJ, Dwyer NK, Watari M, Neufeld EB, Patel S, Pentchev PG, Strauss JF 3rd.

J Biol Chem. 1999 Jul 30;274(31):21861-6.

Supplemental Content

Support Center