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Results: 1-18 |
Results: 18
Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease
Authors: Zhang, M Dwyer, NK Love, DC Cooney, A Comly, M Neufeld, E Pentchev, PG Blanchette-Mackie, EJ Hanover, JA
Citation: M. Zhang et al., Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease, P NAS US, 98(8), 2001, pp. 4466-4471
Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes
Authors: Zhang, M Dwyer, NK Neufeld, EB Love, DC Cooney, A Comly, M Patel, S Watari, H Strauss, JF Pentchev, PG Hanover, JA Blanchette-Mackie, EJ
Citation: M. Zhang et al., Sterol-modulated glycolipid sorting occurs in Niemann-Pick C1 late endosomes, J BIOL CHEM, 276(5), 2001, pp. 3417-3425
Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis
Authors: Higaki, K Ninomiya, H Sugimoto, Y Suzuki, T Taniguchi, M Niwa, H Pentchev, PG Vanier, MT Ohno, K
Citation: K. Higaki et al., Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis, J BIOCHEM, 129(6), 2001, pp. 875-880
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
Authors: Liu, YJ Wu, YP Wada, R Neufeld, EB Mullin, KA Howard, AC Pentchev, PG Vanier, MT Suzuki, K Proia, RL
Citation: Yj. Liu et al., Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse, HUM MOL GEN, 9(7), 2000, pp. 1087-1092
Neuronal localization of sterol regulatory element binding protein-1 in the rodent and primate brain: A light and electron microscopic immunocytochemical study
Authors: Ong, WY Hu, CY Soh, YP Lim, TM Pentchev, PG Patel, SC
Citation: Wy. Ong et al., Neuronal localization of sterol regulatory element binding protein-1 in the rodent and primate brain: A light and electron microscopic immunocytochemical study, NEUROSCIENC, 97(1), 2000, pp. 143-153
Genotype-phenotype relationship of Niemann-Pick disease type C: a possiblecorrelation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
Authors: Yamamoto, T Ninomiya, H Matsumoto, M Ohta, Y Nanba, E Tsutsumi, Y Yamakawa, K Millat, G Vanier, MT Pentchev, PG Ohno, K
Citation: T. Yamamoto et al., Genotype-phenotype relationship of Niemann-Pick disease type C: a possiblecorrelation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts, J MED GENET, 37(9), 2000, pp. 707-711
Determinants of NPC1 expression and action: Key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop
Authors: Watari, H Blanchette-Mackie, EJ Dwyer, NK Watari, M Burd, CG Patel, S Pentchev, PG Strauss, JF
Citation: H. Watari et al., Determinants of NPC1 expression and action: Key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop, EXP CELL RE, 259(1), 2000, pp. 247-256
NPC1-containing compartment of human granulosa-lutein cells: A role in theintracellular trafficking of cholesterol supporting steroidogenesis
Authors: Watari, H Blanchette-Mackie, EJ Dwyer, NK Sun, GS Glick, JM Patel, S Neufeld, EB Pentchev, PG Strauss, JF
Citation: H. Watari et al., NPC1-containing compartment of human granulosa-lutein cells: A role in theintracellular trafficking of cholesterol supporting steroidogenesis, EXP CELL RE, 255(1), 2000, pp. 56-66
Cyclopamine inhibition of sonic hedgehog signal transduction is not mediated through effects on cholesterol transport
Authors: Incardona, JP Gaffield, W Lange, Y Cooney, A Pentchev, PG Liu, S Watson, JA Kapur, RP Roelink, H
Citation: Jp. Incardona et al., Cyclopamine inhibition of sonic hedgehog signal transduction is not mediated through effects on cholesterol transport, DEVELOP BIO, 224(2), 2000, pp. 440-452
Infrared spectroscopic imaging of the biochemical modifications induced inthe cerebellum of the Niemann-Pick type C mouse
Authors: Kidder, LH Colarusso, P Stewart, SA Levin, IW Appel, NM Lester, DS Pentchev, PG Lewis, EN
Citation: Lh. Kidder et al., Infrared spectroscopic imaging of the biochemical modifications induced inthe cerebellum of the Niemann-Pick type C mouse, J BIOMED OP, 4(1), 1999, pp. 7-13
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
Authors: Yamamoto, T Nanba, E Ninomiya, H Higaki, K Taniguchi, M Zhang, HD Akaboshi, S Watanabe, Y Takeshima, T Inui, K Okada, S Tanaka, A Sakuragawa, N Millat, G Vanier, MT Morris, JA Pentchev, PG Ohno, K
Citation: T. Yamamoto et al., NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C, HUM GENET, 105(1-2), 1999, pp. 10-16
Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein
Authors: Xie, CL Turley, SD Pentchev, PG Dietschy, JM
Citation: Cl. Xie et al., Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein, AM J P-ENDO, 39(2), 1999, pp. E336-E344
Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease
Authors: 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
Citation: Sc. Patel et al., Localization of Niemann-Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann-Pick type C disease, P NAS US, 96(4), 1999, pp. 1657-1662
Niemann-pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization
Authors: Watari, H Blanchette-Mackie, EJ Dwyer, NK Glick, JM Patel, S Neufeld, EB Brady, RO Pentchev, PG Strauss, JF
Citation: H. Watari et al., Niemann-pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization, P NAS US, 96(3), 1999, pp. 805-810
Mutations in the leucine zipper motif and sterol-sensing domain inactivatethe Niemann-Pick C1 glycoprotein
Authors: Watari, H Blanchette-Mackie, EJ Dwyer, NK Watari, M Neufeld, EB Patel, S Pentchev, PG Strauss, JF
Citation: H. Watari et al., Mutations in the leucine zipper motif and sterol-sensing domain inactivatethe Niemann-Pick C1 glycoprotein, J BIOL CHEM, 274(31), 1999, pp. 21861-21866
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
Authors: Neufeld, EB Wastney, M Patel, S Suresh, S Cooney, AM Dwyer, NK Roff, CF Ohno, K Morris, JA Carstea, ED Incardona, JP Strauss, JF Vanier, MT Patterson, MC Brady, RO Pentchev, PG Blanchette-Mackie, EJ
Citation: Eb. Neufeld et al., The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo, J BIOL CHEM, 274(14), 1999, pp. 9627-9635
The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene
Authors: Morris, JA Zhang, D Coleman, KG Nagle, J Pentchev, PG Carstea, ED
Citation: Ja. Morris et al., The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene, BIOC BIOP R, 261(2), 1999, pp. 493-498
Niemann-Pick C1 disease: The I1061T substitutions a frequent mutant allelein patients of Western European descent and correlates with a classic juvenile phenotype
Authors: Millat, G Marcais, C Rafi, MA Yamamoto, T Morris, JA Pentchev, PG Ohno, K Wenger, DA Vanier, MT
Citation: G. Millat et al., Niemann-Pick C1 disease: The I1061T substitutions a frequent mutant allelein patients of Western European descent and correlates with a classic juvenile phenotype, AM J HU GEN, 65(5), 1999, pp. 1321-1329
Risultati: 1-18 |