Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis von Carstea, Eugene D., Morris, Jill A., Coleman, Katherine G., Loftus, Stacie K., Zhang, Dana, Cummings, Christiano, Gu, Jessie, Rosenfeld, Melissa A., Pavan, William J., Krizman, David B., Nagle, James, Polymeropoulos, Mihail H., Sturley, Stephen L., Ioannou, Yiannis A., Higgins, Maureen E., Comly, Marcella, Cooney, Adele, Brown, Anthony, Kaneski, Christine R., Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Neufeld, Edward B., Chang, Ta-Yuan, Liscum, Laura, Strauss, Jerome F., Ohno, Kousaku, Zeigler, Marsha, Carmi, Rivka, Sokol, Jacob, Markie, David, O'Neill, Raymond R., van Diggelen, O. P., Elleder, Milan, Patterson, Marc C., Brady, Roscoe O., Vanier, Marie T., Pentchev, Peter G., Tagle, Danilo A.

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Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene von Loftus, Stacie K., Morris, Jill A., Carstea, Eugene D., Gu, Jessie Z., Cummings, Christiano, Brown, Anthony, Ellison, Jane, Ohno, Kousaku, Rosenfeld, Melissa A., Tagle, Danilo A., Pentchev, Peter G., Pavan, William J.

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Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse von YUJING LIU, WU, Y.-P, WADA, R, NEUFELD, E. B, MULLIN, K. A, HOWARD, A. C, PENTCHEV, P. G, VANIER, M. T, SUZUKI, K, PROIA, R. L

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Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density von Ong, W.Y., Sundaram, R.K., Huang, E., Ghoshal, S., Kumar, U., Pentchev, P.G., Patel, S.C.

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Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis von Higaki, Katsumi, Ninomiya, Haruaki, Sugimoto, Yuko, Suzuki, Tatsuya, Taniguchi, Miyako, Niwa, Hitoshi, Pentchev, Peter G., Vanier, Marie T., Ohno, Kousaku

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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts von YAMAMOTO, TOSHIYUKI, NINOMIYA, HARUAKI, MATSUMOTO, MICHIKA, OHTA, YASUTOSHI, NANBA, EIJI, TSUTSUMI, YUKIE, YAMAKAWA, KAZUHIRO, MILLAT, GILLES, VANIER, MARIE T, PENTCHEV, PETER G, OHNO, KOUSAKU

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Differential accumulation of cholesterol in Golgi compartments of normal and Niemann-Pick Type C fibroblasts incubated with LDL : a cytochemical freeze-fracture study von COXEY, R. A, PENTCHEV, P. G, CAMPBELL, G, BLANCHETTE-MACKIE, E. J

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Neuronal localization of sterol regulatory element binding protein-1 in the rodent and primate brain: a light and electron microscopic immunocytochemical study von Ong, W.Y, Hu, C.Y, Soh, Y.P, Lim, T.M, Pentchev, P.G, Patel, S.C

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Neurofibrillary tangles in Niemann-Pick disease type C von SUZUKI, K, PARKER, C. C, PENTCHEV, P. G, KATZ, D, GHETTI, B, D'AGOSTINO, A. N, CARSTEA, E. D

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NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C von YAMAMOTO, T, NANBA, E, OKADA, S, TANAKA, A, SAKURAGAWA, N, MILLAT, G, VANIER, M. T, MORRIS, J. A, PENTCHEV, P. G, OHNO, K, NINOMIYA, H, HIGAKI, K, TANIGUCHI, M, HAIDI ZHANG, AKABOSHI, S, WATANABE, Y, TAKESHIMA, T, INUI, K

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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 von Millat, Gilles, Marçais, Christophe, Rafi, Mohammad A., Yamamoto, Toshiyuki, Morris, Jill A., Pentchev, Peter G., Ohno, Kousaku, Wenger, David A., Vanier, Marie T.

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The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo von Neufeld, E B, Wastney, M, Patel, S, Suresh, S, Cooney, A M, Dwyer, N K, Roff, C F, Ohno, K, Morris, J A, Carstea, E D, Incardona, J P, Strauss, 3rd, J F, Vanier, M T, Patterson, M C, Brady, R O, Pentchev, P G, Blanchette-Mackie, E J

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Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease von AUER, I. A, SCHMIDT, M. L, LEE, V. M.-Y, CURRY, B, SUZUKI, K, SHIN, R.-W, PENTCHEV, P. G, CARSTEA, E. D, TROJANOWSKI, J. Q

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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients von Pentchev, Peter G., Comly, Marcella E., Kruth, Howard S., Vanier, Marie T., Wenger, David A., Patel, Shutish, Brady, Roscoe O.

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Cessation of Rapid Late Endosomal Tubulovesicular Trafficking in Niemann-Pick Type C1 Disease von Zhang, Mei, Dwyer, Nancy K., Love, Dona C., Cooney, Adele, Comly, Marcy, Neufeld, Edward, Pentchev, Peter G., Blanchette-Mackie, E. Joan, Hanover, John A.

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Intracellular Trafficking of Cholesterol Monitored with a Cyclodextrin von Neufeld, Edward B., Cooney, Adele M., Pitha, Josef, Dawidowicz, Eliezar A., Dwyer, Nancy K., Pentchev, Peter G., Blanchette-Mackie, E. Joan

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Progesterone blocks cholesterol translocation from lysosomes von BUTLER, JD, BLANCHETTEMACKIE, J, GOLDIN, E, ONEILL, RR, CARSTEA, G, ROFF, CF, PATTERSON, MC, PATEL, S, COMLY, ME, COONEY, A, VANIER, MT, BRADY, RO, PENTCHEV, PG

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Cerebellar degeneration in the Niemann-Pick type C mouse von HIGASHI, Y, MURAYAMA, S, PENTCHEV, P. G, SUZUKI, K

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The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol von Pentchev, Peter G., Brady, Roscoe O., Blanchette-Mackie, E.Joan, Vanier, Marie T., Carstea, Eugene D., Parker, Colette C., Goldin, Ehud, Roff, Calvin F.

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Neurochemical alterations in the cerebellum of a murine model of Niemann–Pick type C disease von Yadid, Gal, Sotnik-Barkai, Iris, Tornatore, Carlo, Baker-Cairns, Belinda, Harvey-White, Judith, Pentchev, Peter G., Goldin, Ehud

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