Gene Review:
Npc1 - Niemann-Pick type C1
Mus musculus
Synonyms:
A430089E03Rik, C85354, D18Ertd139e, D18Ertd723e, Niemann-Pick C1 protein, ...
Bhattacharyya,
Falk,
Yool,
Baudry,
Wilson,
Erickson,
Erickson,
Lynch,
Liu,
Bi,
Hunter,
Garver,
Heidenreich,
Cherrington,
Yao,
- Cholesterol accumulation in tissues of the Niemann-pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ. Xie, C., Turley, S.D., Dietschy, J.M. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. Erickson, R.P., Garver, W.S., Camargo, F., Hossain, G.S., Heidenreich, R.A. J. Inherit. Metab. Dis. (2000)
- Deregulation of cdk5, hyperphosphorylation, and cytoskeletal pathology in the Niemann-Pick type C murine model. Bu, B., Li, J., Davies, P., Vincent, I. J. Neurosci. (2002)
- Allopregnanolone treatment, both as a single injection or repetitively, delays demyelination and enhances survival of Niemann-Pick C mice. Ahmad, I., Lope-Piedrafita, S., Bi, X., Hicks, C., Yao, Y., Yu, C., Chaitkin, E., Howison, C.M., Weberg, L., Trouard, T.P., Erickson, R.P. J. Neurosci. Res. (2005)
- Tamoxifen and vitamin E treatments delay symptoms in the mouse model of Niemann-Pick C. Bascuñan-Castillo, E.C., Erickson, R.P., Howison, C.M., Hunter, R.J., Heidenreich, R.H., Hicks, C., Trouard, T.P., Gillies, R.J. J. Appl. Genet. (2004)
- Deregulation of the phosphatidylinositol-3 kinase signaling cascade is associated with neurodegeneration in Npc1-/- mouse brain. Bi, X., Liu, J., Yao, Y., Baudry, M., Lynch, G. Am. J. Pathol. (2005)
- Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Griffin, L.D., Gong, W., Verot, L., Mellon, S.H. Nat. Med. (2004)
- Niemann pick type C disease as a model for defects in neurosteroidogenesis. Mellon, S., Gong, W., Griffin, L.D. Endocr. Res. (2004)
- Tissue culture methods to study neurological disorders: establishment of immortalized Schwann cells from murine disease models. Watabe, K., Sakamoto, T., Kawazoe, Y., Michikawa, M., Miyamoto, K., Yamamura, T., Saya, H., Araki, N. Neuropathology : official journal of the Japanese Society of Neuropathology. (2003)
- Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Loftus, S.K., Erickson, R.P., Walkley, S.U., Bryant, M.A., Incao, A., Heidenreich, R.A., Pavan, W.J. Hum. Mol. Genet. (2002)
- Regional and developmental expression of the Npc1 mRNA in the mouse brain. Prasad, A., Fischer, W.A., Maue, R.A., Henderson, L.P. J. Neurochem. (2000)
- The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine livers. Garver, W.S., Hossain, G.S., Winscott, M.M., Heidenreich, R.A. Biochim. Biophys. Acta (1999)
- The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals. Karten, B., Campenot, R.B., Vance, D.E., Vance, J.E. J. Lipid Res. (2006)
- Expression of Niemann-Pick type C transcript in rodent cerebellum in vivo and in vitro. Falk, T., Garver, W.S., Erickson, R.P., Wilson, J.M., Yool, A.J. Brain Res. (1999)
- Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. Xie, C., Burns, D.K., Turley, S.D., Dietschy, J.M. J. Neuropathol. Exp. Neurol. (2000)
- Presenilin redistribution associated with aberrant cholesterol transport enhances beta-amyloid production in vivo. Burns, M., Gaynor, K., Olm, V., Mercken, M., LaFrancois, J., Wang, L., Mathews, P.M., Noble, W., Matsuoka, Y., Duff, K. J. Neurosci. (2003)
- Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes. Kulinski, A., Vance, J.E. J. Biol. Chem. (2007)
- Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. te Vruchte, D., Lloyd-Evans, E., Veldman, R.J., Neville, D.C., Dwek, R.A., Platt, F.M., van Blitterswijk, W.J., Sillence, D.J. J. Biol. Chem. (2004)
- The subcellular localization of the Niemann-Pick Type C proteins depends on the adaptor complex AP-3. Berger, A.C., Salazar, G., Styers, M.L., Newell-Litwa, K.A., Werner, E., Maue, R.A., Corbett, A.H., Faundez, V. J. Cell. Sci. (2007)
- Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain. Liao, G., Yao, Y., Liu, J., Yu, Z., Cheung, S., Xie, A., Liang, X., Bi, X. Am. J. Pathol. (2007)
- Liver disease with altered bile acid transport in Niemann-Pick C mice on a high-fat, 1% cholesterol diet. Erickson, R.P., Bhattacharyya, A., Hunter, R.J., Heidenreich, R.A., Cherrington, N.J. Am. J. Physiol. Gastrointest. Liver Physiol. (2005)
- Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent. Gondré-Lewis, M.C., McGlynn, R., Walkley, S.U. Curr. Biol. (2003)
- Altered expression of caveolin-1 and increased cholesterol in detergent insoluble membrane fractions from liver in mice with Niemann-Pick disease type C. Garver, W.S., Erickson, R.P., Wilson, J.M., Colton, T.L., Hossain, G.S., Kozloski, M.A., Heidenreich, R.A. Biochim. Biophys. Acta (1997)
- Sperm defects in mice lacking a functional Niemann-Pick C1 protein. Fan, J., Akabane, H., Graham, S.N., Richardson, L.L., Zhu, G.Z. Mol. Reprod. Dev. (2006)
- Peripheral nerve pathology in Niemann-Pick type C mouse. Higashi, Y., Murayama, S., Pentchev, P.G., Suzuki, K. Acta Neuropathol. (1995)