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Items: 1 to 20 of 135

1.

Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.

Elrick MJ, Yu T, Chung C, Lieberman AP.

Hum Mol Genet. 2012 Nov 15;21(22):4876-87. doi: 10.1093/hmg/dds324. Epub 2012 Aug 7.

2.

Tau deletion exacerbates the phenotype of Niemann-Pick type C mice and implicates autophagy in pathogenesis.

Pacheco CD, Elrick MJ, Lieberman AP.

Hum Mol Genet. 2009 Mar 1;18(5):956-65. doi: 10.1093/hmg/ddn423. Epub 2008 Dec 12.

3.

Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis.

Elrick MJ, Lieberman AP.

Autophagy. 2013 Feb 1;9(2):234-5. doi: 10.4161/auto.22501. Epub 2012 Oct 19.

4.

β-Cyclodextrin-threaded biocleavable polyrotaxanes ameliorate impaired autophagic flux in Niemann-Pick type C disease.

Tamura A, Yui N.

J Biol Chem. 2015 Apr 10;290(15):9442-54. doi: 10.1074/jbc.M115.636803. Epub 2015 Feb 24.

5.

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.

6.

Altered vitamin E status in Niemann-Pick type C disease.

Ulatowski L, Parker R, Davidson C, Yanjanin N, Kelley TJ, Corey D, Atkinson J, Porter F, Arai H, Walkley SU, Manor D.

J Lipid Res. 2011 Jul;52(7):1400-10. doi: 10.1194/jlr.M015560. Epub 2011 May 5.

8.

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
9.

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.

Lloyd-Evans E, Platt FM.

Traffic. 2010 Apr;11(4):419-28. doi: 10.1111/j.1600-0854.2010.01032.x. Epub 2010 Jan 6. Review.

10.

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
11.

Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease.

Sarkar S, Maetzel D, Korolchuk VI, Jaenisch R.

Autophagy. 2014 Jun;10(6):1137-40. doi: 10.4161/auto.28623.

12.

Complex lipid trafficking in Niemann-Pick disease type C.

Vanier MT.

J Inherit Metab Dis. 2015 Jan;38(1):187-99. doi: 10.1007/s10545-014-9794-4. Epub 2014 Nov 26. Review.

PMID:
25425283
13.

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU.

Am J Pathol. 2011 Aug;179(2):890-902. doi: 10.1016/j.ajpath.2011.04.017. Epub 2011 Jun 2.

14.

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
15.

Normalization of cholesterol homeostasis by 2-hydroxypropyl-β-cyclodextrin in neurons and glia from Niemann-Pick C1 (NPC1)-deficient mice.

Peake KB, Vance JE.

J Biol Chem. 2012 Mar 16;287(12):9290-8. doi: 10.1074/jbc.M111.326405. Epub 2012 Jan 25.

16.

Lysosomal vitamin E accumulation in Niemann-Pick type C disease.

Yévenes LF, Klein A, Castro JF, Marín T, Leal N, Leighton F, Alvarez AR, Zanlungo S.

Biochim Biophys Acta. 2012 Feb;1822(2):150-60. doi: 10.1016/j.bbadis.2011.11.009. Epub 2011 Nov 15.

17.
18.

Cholesterol in Niemann-Pick Type C disease.

Bi X, Liao G.

Subcell Biochem. 2010;51:319-35. doi: 10.1007/978-90-481-8622-8_11. Review.

19.

Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease.

Pacheco CD, Lieberman AP.

Autophagy. 2007 Sep-Oct;3(5):487-9. Epub 2007 Jun 14.

PMID:
17611388
20.

Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.

Goldman SD, Krise JP.

J Biol Chem. 2010 Feb 12;285(7):4983-94. doi: 10.1074/jbc.M109.037622. Epub 2009 Dec 10.

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