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Results: 1 to 20 of 131

1.

Defects in the retina of Niemann-pick type C 1 mutant mice.

Yan X, Ma L, Hovakimyan M, Lukas J, Wree A, Frank M, Guthoff R, Rolfs A, Witt M, Luo J.

BMC Neurosci. 2014 Nov 29;15(1):126. [Epub ahead of print]

PMID:
25472750
[PubMed - as supplied by publisher]
Free PMC Article
2.

Pathological roles of the VEGF/SphK pathway in Niemann-Pick type C neurons.

Lee H, Lee JK, Park MH, Hong YR, Marti HH, Kim H, Okada Y, Otsu M, Seo EJ, Park JH, Bae JH, Okino N, He X, Schuchman EH, Bae JS, Jin HK.

Nat Commun. 2014 Nov 24;5:5514. doi: 10.1038/ncomms6514.

PMID:
25417698
[PubMed - in process]
Free PMC Article
3.

Metabolism, energetics, and lipid biology in the podocyte - cellular cholesterol-mediated glomerular injury.

Merscher S, Pedigo CE, Mendez AJ.

Front Endocrinol (Lausanne). 2014 Oct 14;5:169. doi: 10.3389/fendo.2014.00169. eCollection 2014. Review.

PMID:
25352833
[PubMed]
Free PMC Article
4.
5.

A marked paucity of granule cells in the developing cerebellum of the Npc1(-/-) mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin.

Nusca S, Canterini S, Palladino G, Bruno F, Mangia F, Erickson RP, Fiorenza MT.

Neurobiol Dis. 2014 Oct;70:117-26. doi: 10.1016/j.nbd.2014.06.012. Epub 2014 Jun 24.

PMID:
24969023
[PubMed - in process]
Free PMC Article
6.

Oestrogen receptor-alpha regulates non-canonical Hedgehog-signalling in the mammary gland.

Okolowsky N, Furth PA, Hamel PA.

Dev Biol. 2014 Jul 15;391(2):219-29. doi: 10.1016/j.ydbio.2014.04.007. Epub 2014 Apr 21.

PMID:
24769368
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Inhibition of GM3 synthase attenuates neuropathology of niemann-pick disease type C by affecting sphingolipid metabolism.

Lee H, Lee JK, Bae YC, Yang SH, Okino N, Schuchman EH, Yamashita T, Bae JS, Jin HK.

Mol Cells. 2014 Feb;37(2):161-71. doi: 10.14348/molcells.2014.2347. Epub 2014 Feb 19.

PMID:
24599001
[PubMed - in process]
Free PMC Article
8.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar 3;124(3):1320-8.

PMID:
24487591
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Olfactory deficits in Niemann-Pick type C1 (NPC1) disease.

Hovakimyan M, Meyer A, Lukas J, Luo J, Gudziol V, Hummel T, Rolfs A, Wree A, Witt M.

PLoS One. 2013 Dec 31;8(12):e82216. doi: 10.1371/journal.pone.0082216. eCollection 2013.

PMID:
24391715
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain.

Kennedy BE, LeBlanc VG, Mailman TM, Fice D, Burton I, Karakach TK, Karten B.

PLoS One. 2013 Dec 18;8(12):e82685. doi: 10.1371/journal.pone.0082685. eCollection 2013.

PMID:
24367541
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Impaired autophagy in the lipid-storage disorder Niemann-Pick type C1 disease.

Sarkar S, Carroll B, Buganim Y, Maetzel D, Ng AH, Cassady JP, Cohen MA, Chakraborty S, Wang H, Spooner E, Ploegh H, Gsponer J, Korolchuk VI, Jaenisch R.

Cell Rep. 2013 Dec 12;5(5):1302-15. doi: 10.1016/j.celrep.2013.10.042. Epub 2013 Nov 27.

PMID:
24290752
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.

Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, H Vite C, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC.

Curr Top Med Chem. 2014;14(3):330-9. Review.

PMID:
24283970
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.

Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM.

Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14.

PMID:
24235134
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.

Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ.

Orphanet J Rare Dis. 2013 Sep 18;8:144. doi: 10.1186/1750-1172-8-144.

PMID:
24044630
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The potential of histone deacetylase inhibitors in Niemann - Pick type C disease.

Maceyka M, Milstien S, Spiegel S.

FEBS J. 2013 Dec;280(24):6367-72. doi: 10.1111/febs.12505. Epub 2013 Sep 23. Review.

PMID:
23992240
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Disruption in connexin-based communication is associated with intracellular Ca²⁺ signal alterations in astrocytes from Niemann-Pick type C mice.

Sáez PJ, Orellana JA, Vega-Riveros N, Figueroa VA, Hernández DE, Castro JF, Klein AD, Jiang JX, Zanlungo S, Sáez JC.

PLoS One. 2013 Aug 15;8(8):e71361. doi: 10.1371/journal.pone.0071361. eCollection 2013.

PMID:
23977027
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C.

Lopez ME, Scott MP.

Dis Model Mech. 2013 Sep;6(5):1089-100. doi: 10.1242/dmm.012385. Epub 2013 Aug 1. Review.

PMID:
23907005
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.

Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, Davidson C, Walkley SU, Bagel JH, Vite C, Yanjanin NM, Porter FD, Schaffer JE, Ory DS.

J Lipid Res. 2013 Oct;54(10):2800-14. doi: 10.1194/jlr.M040618. Epub 2013 Jul 23.

PMID:
23881911
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Disruption of multivesicular body vesicles does not affect major histocompatibility complex (MHC) class II-peptide complex formation and antigen presentation by dendritic cells.

Bosch B, Berger AC, Khandelwal S, Heipertz EL, Scharf B, Santambrogio L, Roche PA.

J Biol Chem. 2013 Aug 23;288(34):24286-92. doi: 10.1074/jbc.M113.461996. Epub 2013 Jul 11.

PMID:
23846690
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
23843985
[PubMed - indexed for MEDLINE]
Free PMC Article

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