Baïlo,
Blanchette-Mackie,
Furuta,
Millat,
Murty,
Stonik,
Kumemura,
Koga,
Brewer,
Ninomiya,
Pentchev,
Comly,
Hanada,
Blanchette-Mackie,
Cooney,
Patel,
Brady,
Gillan,
Rodriguez,
Sparrow,
Harada,
Suganuma,
Klein,
O'Brien,
Ioannou,
Santamarina-Fojo,
Kumar,
Kaminski,
Remaley,
Terada,
Molinero,
Neufeld,
Pendlebury,
Schmitz,
Baba,
Peyser,
Balch,
Taniguchi,
Patel,
Tatlidil,
Maeyama,
Hu,
Suresh,
Elleder,
Patel,
Snow,
Munoz,
Neumann,
Demosky,
Ong,
Chikh,
Dwyer,
Sugiyama,
Ueno,
Kawaguchi,
Neufeld,
Knapper,
Liscum,
Klünemann,
Vanier,
Sata,
Cooney,
Greer,
Patterson,
Dobson,
Combs,
Riddell,
Girouard,
Sturley,
- Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease. Paul, C.A., Reid, P.C., Boegle, A.K., Karten, B., Zhang, M., Jiang, Z.G., Franz, D., Lin, L., Chang, T.Y., Vance, J.E., Blanchette-Mackie, J., Maue, R.A. J. Neurosci. Res. (2005)
- Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group. Christomanou, H., Vanier, M.T., Santambrogio, P., Arosio, P., Kleijer, W.J., Harzer, K. Mol. Genet. Metab. (2000)
- Flux of fatty acids through NPC1 lysosomes. Passeggio, J., Liscum, L. J. Biol. Chem. (2005)
- Transmembrane molecular pump activity of Niemann-Pick C1 protein. Davies, J.P., Chen, F.W., Ioannou, Y.A. Science (2000)
- Pregnane X receptor (PXR) activation: A mechanism for neuroprotection in a mouse model of Niemann-Pick C disease. Langmade, S.J., Gale, S.E., Frolov, A., Mohri, I., Suzuki, K., Mellon, S.H., Walkley, S.U., Covey, D.F., Schaffer, J.E., Ory, D.S. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Saito, Y., Suzuki, K., Nanba, E., Yamamoto, T., Ohno, K., Murayama, S. Ann. Neurol. (2002)
- Niemann-Pick type C disease associated with peripheral neuropathy. Zafeiriou, D.I., Triantafyllou, P., Gombakis, N.P., Vargiami, E., Tsantali, C., Michelakaki, E. Pediatric neurology. (2003)
- Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Carstea, E.D., Morris, J.A., Coleman, K.G., Loftus, S.K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M.A., Pavan, W.J., Krizman, D.B., Nagle, J., Polymeropoulos, M.H., Sturley, S.L., Ioannou, Y.A., Higgins, M.E., Comly, M., Cooney, A., Brown, A., Kaneski, C.R., Blanchette-Mackie, E.J., Dwyer, N.K., Neufeld, E.B., Chang, T.Y., Liscum, L., Strauss, J.F., Ohno, K., Zeigler, M., Carmi, R., Sokol, J., Markie, D., O'Neill, R.R., van Diggelen, O.P., Elleder, M., Patterson, M.C., Brady, R.O., Vanier, M.T., Pentchev, P.G., Tagle, D.A. Science (1997)
- Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage. Narita, K., Choudhury, A., Dobrenis, K., Sharma, D.K., Holicky, E.L., Marks, D.L., Walkley, S.U., Pagano, R.E. FASEB J. (2005)
- The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. Neufeld, E.B., Stonik, J.A., Demosky, S.J., Knapper, C.L., Combs, C.A., Cooney, A., Comly, M., Dwyer, N., Blanchette-Mackie, J., Remaley, A.T., Santamarina-Fojo, S., Brewer, H.B. J. Biol. Chem. (2004)
- The pathophysiology and mechanisms of NP-C disease. Sturley, S.L., Patterson, M.C., Balch, W., Liscum, L. Biochim. Biophys. Acta (2004)
- Mobilization of late-endosomal cholesterol is inhibited by Rab guanine nucleotide dissociation inhibitor. Hölttä-Vuori, M., Määttä, J., Ullrich, O., Kuismanen, E., Ikonen, E. Curr. Biol. (2000)
- Guilty until proven innocent: the case of NPC1 and cholesterol. Ioannou, Y.A. Trends Biochem. Sci. (2005)
- Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Ohgami, N., Ko, D.C., Thomas, M., Scott, M.P., Chang, C.C., Chang, T.Y. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Blom, T.S., Linder, M.D., Snow, K., Pihko, H., Hess, M.W., Jokitalo, E., Veckman, V., Syvänen, A.C., Ikonen, E. Hum. Mol. Genet. (2003)
- Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Klünemann, H.H., Elleder, M., Kaminski, W.E., Snow, K., Peyser, J.M., O'Brien, J.F., Munoz, D., Schmitz, G., Klein, H.E., Pendlebury, W.W. Ann. Neurol. (2002)
- The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol. Millard, E.E., Gale, S.E., Dudley, N., Zhang, J., Schaffer, J.E., Ory, D.S. J. Biol. Chem. (2005)
- Correction of Apolipoprotein A-I-mediated Lipid Efflux and High Density Lipoprotein Particle Formation in Human Niemann-Pick Type C Disease Fibroblasts. Boadu, E., Choi, H.Y., Lee, D.W., Waddington, E.I., Chan, T., Asztalos, B., Vance, J.E., Chan, A., Castro, G., Francis, G.A. J. Biol. Chem. (2006)
- Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein. Davies, J.P., Ioannou, Y.A. J. Biol. Chem. (2000)
- The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein. Harada, M., Kawaguchi, T., Kumemura, H., Terada, K., Ninomiya, H., Taniguchi, E., Hanada, S., Baba, S., Maeyama, M., Koga, H., Ueno, T., Furuta, K., Suganuma, T., Sugiyama, T., Sata, M. Am. J. Pathol. (2005)
- Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Park, W.D., O'Brien, J.F., Lundquist, P.A., Kraft, D.L., Vockley, C.W., Karnes, P.S., Patterson, M.C., Snow, K. Hum. Mutat. (2003)
- Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Greer, W.L., Dobson, M.J., Girouard, G.S., Byers, D.M., Riddell, D.C., Neumann, P.E. Am. J. Hum. Genet. (1999)
- Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization. Watari, H., Blanchette-Mackie, E.J., Dwyer, N.K., Glick, J.M., Patel, S., Neufeld, E.B., Brady, R.O., Pentchev, P.G., Strauss, J.F. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop. Infante, R.E., Radhakrishnan, A., Abi-Mosleh, L., Kinch, L.N., Wang, M.L., Grishin, N.V., Goldstein, J.L., Brown, M.S. J. Biol. Chem. (2008)
- Niemann-Pick C1 functions in regulating lysosomal amine content. Kaufmann, A.M., Krise, J.P. J. Biol. Chem. (2008)
- Characterization of fluorescent sterol binding to purified human NPC1. Liu, R., Lu, P., Chu, J.W., Sharom, F.J. J. Biol. Chem. (2009)
- NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. Frolov, A., Zielinski, S.E., Crowley, J.R., Dudley-Rucker, N., Schaffer, J.E., Ory, D.S. J. Biol. Chem. (2003)
- Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease. Patel, S.C., Suresh, S., Kumar, U., Hu, C.Y., Cooney, A., Blanchette-Mackie, E.J., Neufeld, E.B., Patel, R.C., Brady, R.O., Patel, Y.C., Pentchev, P.G., Ong, W.Y. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease. Greer, W.L., Riddell, D.C., Murty, S., Gillan, T.L., Girouard, G.S., Sparrow, S.M., Tatlidil, C., Dobson, M.J., Neumann, P.E. Clin. Genet. (1999)
- Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Millat, G., Baïlo, N., Molinero, S., Rodriguez, C., Chikh, K., Vanier, M.T. Mol. Genet. Metab. (2005)
- Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency. Tamura, H., Takahashi, T., Ban, N., Torisu, H., Ninomiya, H., Takada, G., Inagaki, N. Mol. Genet. Metab. (2006)