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Items: 1 to 20 of 97

1.

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;124(3):1320-8.

2.

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.

3.

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann-Pick disease type C1 mice.

Williams IM, Wallom KL, Smith DA, Al Eisa N, Smith C, Platt FM.

Neurobiol Dis. 2014 Jul;67:9-17. doi: 10.1016/j.nbd.2014.03.001. Epub 2014 Mar 12.

PMID:
24631719
4.

Reduced cerebellar neurodegeneration after combined therapy with cyclodextrin/allopregnanolone and miglustat in NPC1: a mouse model of Niemann-Pick type C1 disease.

Maass F, Petersen J, Hovakimyan M, Schmitt O, Witt M, Hawlitschka A, Lukas J, Rolfs A, Wree A.

J Neurosci Res. 2015 Mar;93(3):433-42. doi: 10.1002/jnr.23509. Epub 2014 Nov 14.

PMID:
25400034
5.

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22.

6.

Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice.

Hovakimyan M, Maass F, Petersen J, Holzmann C, Witt M, Lukas J, Frech MJ, Hübner R, Rolfs A, Wree A.

Neuroscience. 2013 Nov 12;252:201-11. doi: 10.1016/j.neuroscience.2013.08.001. Epub 2013 Aug 13.

PMID:
23948640
7.

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

Nicoli ER, Al Eisa N, Cluzeau CV, Wassif CA, Gray J, Burkert KR, Smith DA, Morris L, Cologna SM, Peer CJ, Sissung TM, Uscatu CD, Figg WD, Pavan WJ, Vite CH, Porter FD, Platt FM.

PLoS One. 2016 Mar 28;11(3):e0152007. doi: 10.1371/journal.pone.0152007. eCollection 2016.

8.

Increased Regenerative Capacity of the Olfactory Epithelium in Niemann-Pick Disease Type C1.

Meyer A, Wree A, Günther R, Holzmann C, Schmitt O, Rolfs A, Witt M.

Int J Mol Sci. 2017 Apr 6;18(4). pii: E777. doi: 10.3390/ijms18040777.

9.

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.

Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, Ory DS, Vanier MT, Walkley SU.

PLoS One. 2009 Sep 11;4(9):e6951. doi: 10.1371/journal.pone.0006951.

10.

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A.

Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.

11.

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Cologna SM, Cluzeau CV, Yanjanin NM, Blank PS, Dail MK, Siebel S, Toth CL, Wassif CA, Lieberman AP, Porter FD.

J Inherit Metab Dis. 2014 Jan;37(1):83-92. doi: 10.1007/s10545-013-9610-6. Epub 2013 May 8.

12.

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).

Tortelli B, Fujiwara H, Bagel JH, Zhang J, Sidhu R, Jiang X, Yanjanin NM, Shankar RK, Carillo-Carasco N, Heiss J, Ottinger E, Porter FD, Schaffer JE, Vite CH, Ory DS.

Hum Mol Genet. 2014 Nov 15;23(22):6022-33. doi: 10.1093/hmg/ddu331. Epub 2014 Jun 25.

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.

14.

Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder.

Alam MS, Getz M, Safeukui I, Yi S, Tamez P, Shin J, Velázquez P, Haldar K.

PLoS One. 2012;7(10):e48273. doi: 10.1371/journal.pone.0048273. Epub 2012 Oct 19.

15.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

16.

Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.

Hovakimyan M, Petersen J, Maass F, Reichard M, Witt M, Lukas J, Stachs O, Guthoff R, Rolfs A, Wree A.

PLoS One. 2011;6(12):e28418. doi: 10.1371/journal.pone.0028418. Epub 2011 Dec 6.

17.

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.

Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH, Galione A, Platt FM.

Nat Med. 2008 Nov;14(11):1247-55. doi: 10.1038/nm.1876. Epub 2008 Oct 26.

PMID:
18953351
18.

Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice.

Amritraj A, Peake K, Kodam A, Salio C, Merighi A, Vance JE, Kar S.

Am J Pathol. 2009 Dec;175(6):2540-56. doi: 10.2353/ajpath.2009.081096. Epub 2009 Nov 5.

19.

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin.

Palladino G, Loizzo S, Fortuna A, Canterini S, Palombi F, Erickson RP, Mangia F, Fiorenza MT.

Orphanet J Rare Dis. 2015 Oct 12;10:133. doi: 10.1186/s13023-015-0348-0.

20.

Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy.

Yu D, Swaroop M, Wang M, Baxa U, Yang R, Yan Y, Coksaygan T, DeTolla L, Marugan JJ, Austin CP, McKew JC, Gong DW, Zheng W.

J Biomol Screen. 2014 Sep;19(8):1164-73. doi: 10.1177/1087057114537378. Epub 2014 Jun 6.

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