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Results: 1 to 20 of 182

Similar articles for PubMed (Select 23010472)

1.

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.

Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.

Hum Mol Genet. 2013 Jan 1;22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.

2.

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
3.

Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.

Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR.

Gene. 2012 May 1;498(2):332-5. doi: 10.1016/j.gene.2012.01.026. Epub 2012 Feb 4.

PMID:
22326530
4.

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.

5.

The adult form of Niemann-Pick disease type C.

Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F.

Brain. 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26. Review.

6.

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M.

Neurogenetics. 2009 Jul;10(3):229-39. doi: 10.1007/s10048-009-0175-3. Epub 2009 Feb 28.

PMID:
19252935
7.

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish.

Schwend T, Loucks EJ, Snyder D, Ahlgren SC.

J Lipid Res. 2011 Jul;52(7):1328-44. doi: 10.1194/jlr.M012377. Epub 2011 May 16.

8.

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.

9.

Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.

Strauss JF 3rd, Liu P, Christenson LK, Watari H.

Steroids. 2002 Nov;67(12):947-51.

PMID:
12398991
10.

Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.

Parra J, Klein AD, Castro J, Morales MG, Mosqueira M, Valencia I, Cortés V, Rigotti A, Zanlungo S.

Biochem Biophys Res Commun. 2011 Sep 30;413(3):400-6. doi: 10.1016/j.bbrc.2011.08.096. Epub 2011 Sep 2.

PMID:
21910975
11.

Molecular analysis of 30 Niemann-Pick type C patients from Spain.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group.

Clin Genet. 2011 Jul;80(1):39-49. doi: 10.1111/j.1399-0004.2010.01504.x. Epub 2010 Jul 6.

PMID:
20718790
12.

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.

13.

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
14.

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.

15.

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.

16.

Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain.

Ohgami N, Ko DC, Thomas M, Scott MP, Chang CC, Chang TY.

Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12473-8. Epub 2004 Aug 16.

17.

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.

PMID:
20059748
18.

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.

19.

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.

20.

Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

Kirk J, Porter KM, Parker V, Barroso I, O'Rahilly S, Hendriksz C, Semple RK.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S227-32. doi: 10.1007/s10545-010-9107-5. Epub 2010 Jun 3.

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