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Items: 1 to 50 of 130

1.

Spreading the wealth: Niemann-Pick type C proteins bind and transport cholesterol.

Munkacsi AB, Pentchev PG, Sturley SL.

Cell Metab. 2009 Jul;10(1):3-4. doi: 10.1016/j.cmet.2009.06.007.

2.

Niemann-Pick C research from mouse to gene.

Pentchev PG.

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

PMID:
15465420
3.

Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density.

Ong WY, Sundaram RK, Huang E, Ghoshal S, Kumar U, Pentchev PG, Patel SC.

Neuroscience. 2004;128(3):561-70.

PMID:
15381285
4.

Fitting a mathematical model to biological data: intracellular trafficking in Niemann-Pick C disease.

Wastney ME, Pentchev PG, Neufeld EB.

Adv Exp Med Biol. 2003;537:63-75. No abstract available.

PMID:
14995028
5.

Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis.

Higaki K, Ninomiya H, Sugimoto Y, Suzuki T, Taniguchi M, Niwa H, Pentchev PG, Vanier MT, Ohno K.

J Biochem. 2001 Jun;129(6):875-80.

6.

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease.

Zhang M, Dwyer NK, Love DC, Cooney A, Comly M, Neufeld E, Pentchev PG, Blanchette-Mackie EJ, Hanover JA.

Proc Natl Acad Sci U S A. 2001 Apr 10;98(8):4466-71.

7.

Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.

Yamamoto T, Ninomiya H, Matsumoto M, Ohta Y, Nanba E, Tsutsumi Y, Yamakawa K, Millat G, Vanier MT, Pentchev PG, Ohno K.

J Med Genet. 2000 Sep;37(9):707-12. No abstract available.

8.

Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes.

Zhang M, Dwyer NK, Neufeld EB, Love DC, Cooney A, Comly M, Patel S, Watari H, Strauss JF 3rd, Pentchev PG, Hanover JA, Blanchette-Mackie EJ.

J Biol Chem. 2001 Feb 2;276(5):3417-25. Epub 2000 Oct 13.

9.

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.

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

Exp Cell Res. 2000 Aug 25;259(1):247-56.

PMID:
10942596
10.

Cyclopamine inhibition of Sonic hedgehog signal transduction is not mediated through effects on cholesterol transport.

Incardona JP, Gaffield W, Lange Y, Cooney A, Pentchev PG, Liu S, Watson JA, Kapur RP, Roelink H.

Dev Biol. 2000 Aug 15;224(2):440-52.

11.
12.

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.

Liu Y, Wu YP, Wada R, Neufeld EB, Mullin KA, Howard AC, Pentchev PG, Vanier MT, Suzuki K, Proia RL.

Hum Mol Genet. 2000 Apr 12;9(7):1087-92.

PMID:
10767333
13.

NPC1-containing compartment of human granulosa-lutein cells: a role in the intracellular trafficking of cholesterol supporting steroidogenesis.

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

Exp Cell Res. 2000 Feb 25;255(1):56-66.

PMID:
10666334
14.

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT.

Am J Hum Genet. 1999 Nov;65(5):1321-9.

15.

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K.

Hum Genet. 1999 Jul-Aug;105(1-2):10-6.

PMID:
10480349
16.

The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.

Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED.

Biochem Biophys Res Commun. 1999 Aug 2;261(2):493-8.

PMID:
10425213
17.

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.

18.

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.

19.

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.

20.

Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein.

Xie C, Turley SD, Pentchev PG, Dietschy JM.

Am J Physiol. 1999 Feb;276(2):E336-44. doi: 10.1152/ajpendo.1999.276.2.E336.

PMID:
9950794
21.

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.

22.

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse.

Kidder LH, Colarusso P, Stewart SA, Levin IW, Appel NM, Lester DS, Pentchev PG, Lewis EN.

J Biomed Opt. 1999 Jan;4(1):7-13.

23.

Neurochemical alterations in the cerebellum of a murine model of Niemann-Pick type C disease.

Yadid G, Sotnik-Barkai I, Tornatore C, Baker-Cairns B, Harvey-White J, Pentchev PG, Goldin E.

Brain Res. 1998 Jul 20;799(2):250-6.

PMID:
9675302
24.

Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation.

Shamburek RD, Pentchev PG, Zech LA, Blanchette-Mackie J, Carstea ED, VandenBroek JM, Cooper PS, Neufeld EB, Phair RD, Brewer HB Jr, Brady RO, Schwartz CC.

J Lipid Res. 1997 Dec;38(12):2422-35.

25.
26.

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ.

Science. 1997 Jul 11;277(5323):232-5.

27.

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.

Science. 1997 Jul 11;277(5323):228-31.

28.

Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation.

Gu JZ, Carstea ED, Cummings C, Morris JA, Loftus SK, Zhang D, Coleman KG, Cooney AM, Comly ME, Fandino L, Roff C, Tagle DA, Pavan WJ, Pentchev PG, Rosenfeld MA.

Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7378-83.

29.

Biological implications of the Niemann-Pick C mutation.

Pentchev PG, Blanchette-Mackie EJ, Liscum L.

Subcell Biochem. 1997;28:437-51. Review. No abstract available.

PMID:
9090302
30.

Molecular cloning of the mouse apolipoprotein D gene and its upregulated expression in Niemann-Pick disease type C mouse model.

Yoshida K, Cleaveland ES, Nagle JW, French S, Yaswen L, Ohshima T, Brady RO, Pentchev PG, Kulkarni AB.

DNA Cell Biol. 1996 Oct;15(10):873-82.

PMID:
8892759
31.

Intracellular trafficking of cholesterol monitored with a cyclodextrin.

Neufeld EB, Cooney AM, Pitha J, Dawidowicz EA, Dwyer NK, Pentchev PG, Blanchette-Mackie EJ.

J Biol Chem. 1996 Aug 30;271(35):21604-13.

32.

Niemann-Pick; type C.

Patterson MC, Pentchev PG.

Neurology. 1996 Jun;46(6):1785-6. No abstract available.

PMID:
8649605
33.

Changes in the levels of dolichol and dolichyl phosphate in a murine model of Niemann-Pick's type C disease.

Schedin S, Pentchev PG, Brunk U, Dallner G.

J Neurochem. 1995 Aug;65(2):670-6.

PMID:
7616223
34.

Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent.

Goldin E, Blanchette-Mackie EJ, Dwyer NK, Pentchev PG, Brady RO.

Pediatr Res. 1995 Jun;37(6):687-92.

PMID:
7651750
35.

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease.

Auer IA, Schmidt ML, Lee VM, Curry B, Suzuki K, Shin RW, Pentchev PG, Carstea ED, Trojanowski JQ.

Acta Neuropathol. 1995;90(6):547-51.

PMID:
8615074
36.

Neurofibrillary tangles in Niemann-Pick disease type C.

Suzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D'Agostino AN, Carstea ED.

Acta Neuropathol. 1995;89(3):227-38.

PMID:
7754743
37.

Ultrastructural changes in the lung in Niemann-Pick type C mouse.

Manabe T, Yamane T, Higashi Y, Pentchev PG, Suzuki K.

Virchows Arch. 1995;427(1):77-83.

PMID:
7551349
38.

Peripheral nerve pathology in Niemann-Pick type C mouse.

Higashi Y, Murayama S, Pentchev PG, Suzuki K.

Acta Neuropathol. 1995;90(2):158-63.

PMID:
7484091
39.

The NP-C gene: a key to pathways of intracellular cholesterol transport.

Pentchev PG, Blanchette-Mackie EJ, Dawidowicz EA.

Trends Cell Biol. 1994 Oct;4(10):365-9.

PMID:
14731625
40.

Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders.

Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT.

Biochim Biophys Acta. 1994 May 25;1226(2):138-44.

PMID:
8204660
41.

Niemann-Pick-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants.

Kristjansson K, Finegold MJ, Pentchev PG, Belmont JW.

Eur J Pediatr. 1994 May;153(5):347-51.

PMID:
8033925
42.

Diagnosis of Niemann-Pick disease type C.

Patterson MC, Pentchev PG.

J Pediatr. 1994 Apr;124(4):655-6. No abstract available.

PMID:
8151488
43.

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol.

Pentchev PG, Brady RO, Blanchette-Mackie EJ, Vanier MT, Carstea ED, Parker CC, Goldin E, Roff CF.

Biochim Biophys Acta. 1994 Feb 22;1225(3):235-43. Review. No abstract available.

PMID:
8312368
44.

Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

Goldin E, Imai Y, Kaneski CR, Pentchev PG, Brady RO, Hascall VC.

J Inherit Metab Dis. 1994;17(5):545-53.

PMID:
7837760
45.

The murine Niemann-Pick type C lesion affects testosterone production.

Roff CF, Strauss JF 3rd, Goldin E, Jaffe H, Patterson MC, Agritellis GC, Hibbs AM, Garfield M, Brady RO, Pentchev PG.

Endocrinology. 1993 Dec;133(6):2913-23.

PMID:
8243319
46.

Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis.

Butler JD, Vanier MT, Pentchev PG.

Biochem Biophys Res Commun. 1993 Oct 15;196(1):154-9.

PMID:
8216287
48.

Cholesterol deprivation affects the fluorescence properties of a ceramide analog at the Golgi apparatus of living cells.

Martin OC, Comly ME, Blanchette-Mackie EJ, Pentchev PG, Pagano RE.

Proc Natl Acad Sci U S A. 1993 Apr 1;90(7):2661-5.

49.

The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C.

Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, Argoff CE, Grewal RP, Yu K, Pentchev PG, et al.

Neurology. 1993 Jan;43(1):61-4.

PMID:
8423912
50.

Cerebellar degeneration in the Niemann-Pick type C mouse.

Higashi Y, Murayama S, Pentchev PG, Suzuki K.

Acta Neuropathol. 1993;85(2):175-84.

PMID:
8382896

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