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Items: 1 to 20 of 107

1.

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects.

Pacheco CD, Kunkel R, Lieberman AP.

Hum Mol Genet. 2007 Jun 15;16(12):1495-503. Epub 2007 Apr 27.

2.

Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells.

Karten B, Peake KB, Vance JE.

Biochim Biophys Acta. 2009 Jul;1791(7):659-70. doi: 10.1016/j.bbalip.2009.01.025. Epub 2009 Feb 11. Review.

PMID:
19416638
3.

Niemann-Pick type C mutations cause lipid traffic jam.

Liscum L.

Traffic. 2000 Mar;1(3):218-25. Review.

4.

Niemann-Pick C disease: cholesterol handling gone awry.

Morris JA, Carstea ED.

Mol Med Today. 1998 Dec;4(12):525-31. Review.

PMID:
9866822
5.

Intracellular trafficking of Niemann-Pick C proteins 1 and 2: obligate components of subcellular lipid transport.

Liscum L, Sturley SL.

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):22-7. Review.

PMID:
15465423
6.

The pathogenesis of Niemann-Pick type C disease: a role for autophagy?

Pacheco CD, Lieberman AP.

Expert Rev Mol Med. 2008 Sep 10;10:e26. doi: 10.1017/S146239940800080X. Review.

7.

Lipid imbalance in the neurological disorder, Niemann-Pick C disease.

Vance JE.

FEBS Lett. 2006 Oct 9;580(23):5518-24. Epub 2006 Jun 15. Review.

8.

Lipid and cholesterol trafficking in NPC.

Mukherjee S, Maxfield FR.

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):28-37. Review.

PMID:
15465424
9.

Defective cholesterol trafficking in Niemann-Pick C-deficient cells.

Peake KB, Vance JE.

FEBS Lett. 2010 Jul 2;584(13):2731-9. doi: 10.1016/j.febslet.2010.04.047. Epub 2010 Apr 21. Review.

10.

The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system.

Garver WS, Heidenreich RA.

Curr Mol Med. 2002 Aug;2(5):485-505. Review.

PMID:
12125814
11.

Consequences of NPC1 and NPC2 loss of function in mammalian neurons.

Walkley SU, Suzuki K.

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):48-62. Review.

PMID:
15465426
12.

Niemann-Pick disease type C.

Vanier MT, Millat G.

Clin Genet. 2003 Oct;64(4):269-81. Review.

PMID:
12974729
13.

The structure and function of the Niemann-Pick C1 protein.

Ioannou YA.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):175-81. Review.

PMID:
11001808
14.

Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.

Vance JE, Peake KB.

Curr Opin Lipidol. 2011 Jun;22(3):204-9. doi: 10.1097/MOL.0b013e3283453e69. Review.

PMID:
21412152
15.

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
16.

The NPC1 protein: structure implies function.

Scott C, Ioannou YA.

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):8-13. Review.

PMID:
15465421
17.

Niemann-Pick disease type C.

Liscum L, Klansek JJ.

Curr Opin Lipidol. 1998 Apr;9(2):131-5. Review.

PMID:
9559270
18.

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B.

Biochim Biophys Acta. 2009 Apr;1793(4):710-25. doi: 10.1016/j.bbamcr.2008.11.015. Epub 2008 Dec 10. Review.

19.

The niemann-pick disease genes; regulators of cellular cholesterol homeostasis.

Ory DS.

Trends Cardiovasc Med. 2004 Feb;14(2):66-72. Review.

PMID:
15030792
20.

Therapy of Niemann-Pick disease, type C.

Patterson MC, Platt F.

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):77-82. Review.

PMID:
15465428
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