Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 73

1.

The Palade symposium: celebrating cell biology at its best.

Schmid SL, Farquhar MG.

Mol Biol Cell. 2010 Jul 15;21(14):2367-70. doi: 10.1091/mbc.E10-03-0179. Epub 2010 May 26.

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
3.

Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.

Chikh K, Vey S, Simonot C, Vanier MT, Millat G.

Mol Genet Metab. 2004 Nov;83(3):220-30.

PMID:
15542393
4.

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.

Blom TS, Linder MD, Snow K, Pihko H, Hess MW, Jokitalo E, Veckman V, Syvänen AC, Ikonen E.

Hum Mol Genet. 2003 Feb 1;12(3):257-72.

PMID:
12554680
5.

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.

6.
7.

The subcellular localization of the Niemann-Pick Type C proteins depends on the adaptor complex AP-3.

Berger AC, Salazar G, Styers ML, Newell-Litwa KA, Werner E, Maue RA, Corbett AH, Faundez V.

J Cell Sci. 2007 Oct 15;120(Pt 20):3640-52. Epub 2007 Sep 25.

9.

Differential trafficking of the Niemann-Pick C1 and 2 proteins highlights distinct roles in late endocytic lipid trafficking.

Zhang M, Sun M, Dwyer NK, Comly ME, Patel SC, Sundaram R, Hanover JA, Blanchette-Mackie EJ.

Acta Paediatr Suppl. 2003 Dec;92(443):63-73; discussion 45.

PMID:
14989468
10.

Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease.

Choi HY, Karten B, Chan T, Vance JE, Greer WL, Heidenreich RA, Garver WS, Francis GA.

J Biol Chem. 2003 Aug 29;278(35):32569-77. Epub 2003 Jun 16.

11.
12.

The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.

Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF 3rd, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ.

J Biol Chem. 1999 Apr 2;274(14):9627-35.

13.

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.

14.

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.

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.

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
17.

Transport of plasma membrane-derived cholesterol and the function of Niemann-Pick C1 Protein.

Wiegand V, Chang TY, Strauss JF 3rd, Fahrenholz F, Gimpl G.

FASEB J. 2003 Apr;17(6):782-4. Epub 2003 Feb 19.

PMID:
12594172
18.

Increased copper levels in in vitro and in vivo models of Niemann-Pick C disease.

Vázquez MC, Martínez P, Alvarez AR, González M, Zanlungo S.

Biometals. 2012 Aug;25(4):777-86. doi: 10.1007/s10534-012-9546-6. Epub 2012 Apr 17.

PMID:
22526561
19.
20.

Niemann-Pick disease type C.

Vanier MT, Millat G.

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

PMID:
12974729

Supplemental Content

Support Center