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Items: 1 to 20 of 106

1.

Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.

Lopez ME, Klein AD, Dimbil UJ, Scott MP.

J Neurosci. 2011 Mar 23;31(12):4367-78. doi: 10.1523/JNEUROSCI.5981-10.2011.

2.

Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia.

Kapur R, Donohue C, Jelinek D, Erickson RP.

J Neurosci Res. 2009 Oct;87(13):2994-3001. doi: 10.1002/jnr.22126.

3.

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.

Elrick MJ, Pacheco CD, Yu T, Dadgar N, Shakkottai VG, Ware C, Paulson HL, Lieberman AP.

Hum Mol Genet. 2010 Mar 1;19(5):837-47. doi: 10.1093/hmg/ddp552. Epub 2009 Dec 10.

4.

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.

Xie C, Gong XM, Luo J, Li BL, Song BL.

J Lipid Res. 2017 Mar;58(3):512-518. doi: 10.1194/jlr.M071274. Epub 2017 Jan 4.

PMID:
28053186
5.

Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target.

Cougnoux A, Cluzeau C, Mitra S, Li R, Williams I, Burkert K, Xu X, Wassif CA, Zheng W, Porter FD.

Cell Death Dis. 2016 Mar 17;7:e2147. doi: 10.1038/cddis.2016.16.

6.

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice.

Zhang M, Strnatka D, Donohue C, Hallows JL, Vincent I, Erickson RP.

J Neurosci Res. 2008 Oct;86(13):2848-56. doi: 10.1002/jnr.21730.

7.

Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro.

Peake KB, Campenot RB, Vance DE, Vance JE.

Biochim Biophys Acta. 2011 Sep;1812(9):1121-9. doi: 10.1016/j.bbadis.2011.06.003. Epub 2011 Jun 17.

8.
9.

Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C.

Lopez ME, Klein AD, Hong J, Dimbil UJ, Scott MP.

Hum Mol Genet. 2012 Jul 1;21(13):2946-60. doi: 10.1093/hmg/dds126. Epub 2012 Apr 6.

10.

Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin.

Yu T, Lieberman AP.

PLoS Genet. 2013 Apr;9(4):e1003462. doi: 10.1371/journal.pgen.1003462. Epub 2013 Apr 11.

11.

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;15:126. doi: 10.1186/s12868-014-0126-2.

12.

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.

13.

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
14.

Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease.

Ko DC, Milenkovic L, Beier SM, Manuel H, Buchanan J, Scott MP.

PLoS Genet. 2005 Jul;1(1):81-95. Epub 2005 Jul 25. Erratum in: PLoS Genet. 2005 Dec;1(6):e86.

15.

Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease.

Patel SC, Suresh S, Kumar U, Hu CY, Cooney A, Blanchette-Mackie EJ, Neufeld EB, Patel RC, Brady RO, Patel YC, Pentchev PG, Ong WY.

Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1657-62.

16.

Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration.

Yu T, Shakkottai VG, Chung C, Lieberman AP.

Hum Mol Genet. 2011 Nov 15;20(22):4440-51. doi: 10.1093/hmg/ddr372. Epub 2011 Aug 19.

17.

Geranylgeranyl pyrophosphate is crucial for neuronal survival but has no special role in Purkinje cell degeneration in Niemann Pick type C1 disease.

Marschalek N, Albert F, Afshordel S, Meske V, Eckert GP, Ohm TG.

J Neurochem. 2015 Apr;133(1):153-61. doi: 10.1111/jnc.12959. Epub 2015 Feb 5.

18.

The autophagic defect in Niemann-Pick disease type C neurons differs from somatic cells and reduces neuronal viability.

Meske V, Erz J, Priesnitz T, Ohm TG.

Neurobiol Dis. 2014 Apr;64:88-97. doi: 10.1016/j.nbd.2013.12.018. Epub 2014 Jan 9.

PMID:
24412309
19.
20.

Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.

Chung C, Puthanveetil P, Ory DS, Lieberman AP.

Hum Mol Genet. 2016 Apr 1;25(7):1434-46. doi: 10.1093/hmg/ddw025. Epub 2016 Jan 28.

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