Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 716

1.

Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, Kraft DL, Lundquist PA, Patterson MC, Pagano RE, Snow K.

Am J Hum Genet. 2001 Jun;68(6):1361-72. Epub 2001 May 9.

PMID:
11349231
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K.

Hum Mutat. 2003 Oct;22(4):313-25.

PMID:
12955717
[PubMed - indexed for MEDLINE]
3.

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Ribeiro I, Marcão A, Amaral O, Sá Miranda MC, Vanier MT, Millat G.

Hum Genet. 2001 Jul;109(1):24-32.

PMID:
11479732
[PubMed - indexed for MEDLINE]
4.

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Millat G, Marçais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT.

Am J Hum Genet. 2001 Jun;68(6):1373-85. Epub 2001 May 1.

PMID:
11333381
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):220-32.

PMID:
16126423
[PubMed - indexed for MEDLINE]
6.

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.

te Vruchte D, Lloyd-Evans E, Veldman RJ, Neville DC, Dwek RA, Platt FM, van Blitterswijk WJ, Sillence DJ.

J Biol Chem. 2004 Jun 18;279(25):26167-75. Epub 2004 Apr 12.

PMID:
15078881
[PubMed - indexed for MEDLINE]
Free Article
7.

Niemann-Pick type C mutations cause lipid traffic jam.

Liscum L.

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

PMID:
11208105
[PubMed - indexed for MEDLINE]
8.

Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.

Watari H, Blanchette-Mackie EJ, Dwyer NK, Glick JM, Patel S, Neufeld EB, Brady RO, Pentchev PG, Strauss JF 3rd.

Proc Natl Acad Sci U S A. 1999 Feb 2;96(3):805-10.

PMID:
9927649
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].

Grau AJ, Weisbrod M, Hund E, Harzer K.

Nervenarzt. 2003 Oct;74(10):900-5. German.

PMID:
14551697
[PubMed - indexed for MEDLINE]
10.

The transport of low density lipoprotein-derived cholesterol to the plasma membrane is defective in NPC1 cells.

Wojtanik KM, Liscum L.

J Biol Chem. 2003 Apr 25;278(17):14850-6. Epub 2003 Feb 18.

PMID:
12591922
[PubMed - indexed for MEDLINE]
Free Article
11.

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

Yang CC, Su YN, Chiou PC, Fietz MJ, Yu CL, Hwu WL, Lee MJ.

J Neurol Neurosurg Psychiatry. 2005 Apr;76(4):592-5.

PMID:
15774455
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol.

Millard EE, Gale SE, Dudley N, Zhang J, Schaffer JE, Ory DS.

J Biol Chem. 2005 Aug 5;280(31):28581-90. Epub 2005 May 20.

PMID:
15908696
[PubMed - indexed for MEDLINE]
Free Article
13.

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.

Watari H, Blanchette-Mackie EJ, Dwyer NK, Watari M, Neufeld EB, Patel S, Pentchev PG, Strauss JF 3rd.

J Biol Chem. 1999 Jul 30;274(31):21861-6.

PMID:
10419504
[PubMed - indexed for MEDLINE]
Free Article
14.

The NPC1 protein: structure implies function.

Scott C, Ioannou YA.

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

PMID:
15465421
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
17468177
[PubMed - indexed for MEDLINE]
Free Article
16.

NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.

Frolov A, Zielinski SE, Crowley JR, Dudley-Rucker N, Schaffer JE, Ory DS.

J Biol Chem. 2003 Jul 11;278(28):25517-25. Epub 2003 Apr 28.

PMID:
12719428
[PubMed - indexed for MEDLINE]
Free Article
17.

Depletion of rafts in late endocytic membranes is controlled by NPC1-dependent recycling of cholesterol to the plasma membrane.

Lusa S, Blom TS, Eskelinen EL, Kuismanen E, Månsson JE, Simons K, Ikonen E.

J Cell Sci. 2001 May;114(Pt 10):1893-900.

PMID:
11329376
[PubMed - indexed for MEDLINE]
Free Article
18.

Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function.

Frolov A, Srivastava K, Daphna-Iken D, Traub LM, Schaffer JE, Ory DS.

J Biol Chem. 2001 Dec 7;276(49):46414-21. Epub 2001 Sep 24.

PMID:
11571306
[PubMed - indexed for MEDLINE]
Free Article
19.

Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

Tamura H, Takahashi T, Ban N, Torisu H, Ninomiya H, Takada G, Inagaki N.

Mol Genet Metab. 2006 Feb;87(2):113-21. Epub 2005 Sep 6.

PMID:
16143556
[PubMed - indexed for MEDLINE]
20.

ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.

Boadu E, Nelson RC, Francis GA.

Biochim Biophys Acta. 2012 Mar;1821(3):396-404. doi: 10.1016/j.bbalip.2011.11.013. Epub 2011 Dec 10.

PMID:
22179027
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk