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There are 42240 results for: content related to: Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

  1. You have free access to this content
    Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein


    Volume 55, Issue 3, March 2012, Pages: 953–964, Yoshihide Yamanashi, Tappei Takada, Jun-Ichi Shoda and Hiroshi Suzuki

    Version of Record online : 30 JAN 2012, DOI: 10.1002/hep.24772

  2. Niemann–Pick disease type C

    Clinical Genetics

    Volume 64, Issue 4, October 2003, Pages: 269–281, MT Vanier and G Millat

    Version of Record online : 15 SEP 2003, DOI: 10.1034/j.1399-0004.2003.00147.x

  3. You have free access to this content
    Defective cholesterol trafficking in Niemann-Pick C-deficient cells

    FEBS Letters

    Volume 584, Issue 13, July 02, 2010, Pages: 2731–2739, Kyle B. Peake and Jean E. Vance

    Version of Record online : 21 APR 2010, DOI: 10.1016/j.febslet.2010.04.047

  4. You have free access to this content
    The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann–Pick type C patients carrying missense mutations

    The FEBS Journal

    Volume 281, Issue 19, October 2014, Pages: 4450–4466, Judit Macías-Vidal, Marisa Girós, Martina Guerrero, Pere Gascón, Joan Serratosa, Oriol Bachs and Maria Josep Coll

    Version of Record online : 21 AUG 2014, DOI: 10.1111/febs.12954

  5. Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse

    Journal of Cellular Biochemistry

    Volume 101, Issue 2, 15 May 2007, Pages: 498–516, William S. Garver, David Jelinek, Janice N. Oyarzo, James Flynn, Matthew Zuckerman, Kumar Krishnan, Byung H. Chung and Randall A. Heidenreich

    Version of Record online : 10 JAN 2007, DOI: 10.1002/jcb.21200

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    Subversion of NPC1 pathway of cholesterol transport by Anaplasma phagocytophilum

    Cellular Microbiology

    Volume 14, Issue 4, April 2012, Pages: 560–576, Qingming Xiong and Yasuko Rikihisa

    Version of Record online : 8 FEB 2012, DOI: 10.1111/j.1462-5822.2011.01742.x

  7. Niemann-Pick type C2 protein regulates liver cancer progression via modulating ERK1/2 pathway: Clinicopathological correlations and therapeutical implications

    International Journal of Cancer

    Volume 137, Issue 6, 15 September 2015, Pages: 1341–1351, Yi-Jen Liao, Cheng-Chieh Fang, Chia-Hung Yen, Shih-Ming Hsu, Chung-Kwe Wang, Shiu-Feng Huang, Yu-Chih Liang, Ying-Yu Lin, Yu-Tseng Chu and Yi-Ming Arthur Chen

    Version of Record online : 24 MAR 2015, DOI: 10.1002/ijc.29507

  8. Niemann–Pick disease Type C: From molecule to clinic

    Clinical and Experimental Pharmacology and Physiology

    Volume 37, Issue 1, January 2010, Pages: 132–140, Ying Tang, He Li and Jun-Ping Liu

    Version of Record online : 29 JUN 2009, DOI: 10.1111/j.1440-1681.2009.05235.x

  9. You have free access to this content
    Lipid imbalance in the neurological disorder, Niemann-Pick C disease

    FEBS Letters

    Volume 580, Issue 23, October 09, 2006, Pages: 5518–5524, Jean E. Vance

    Version of Record online : 15 JUN 2006, DOI: 10.1016/j.febslet.2006.06.008

  10. You have free access to this content
    Ebola virus entry requires the host-programmed recognition of an intracellular receptor

    The EMBO Journal

    Volume 31, Issue 8, April 18, 2012, Pages: 1947–1960, Emily Happy Miller, Gregor Obernosterer, Matthijs Raaben, Andrew S Herbert, Maika S Deffieu, Anuja Krishnan, Esther Ndungo, Rohini G Sandesara, Jan E Carette, Ana I Kuehne, Gordon Ruthel, Suzanne R Pfeffer, John M Dye, Sean P Whelan, Thijn R Brummelkamp and Kartik Chandran

    Version of Record online : 6 MAR 2012, DOI: 10.1038/emboj.2012.53

  11. Molecular analysis of 30 Niemann–Pick type C patients from Spain

    Clinical Genetics

    Volume 80, Issue 1, July 2011, Pages: 39–49, J Macías-Vidal, L Rodríguez-Pascau, G Sánchez-Ollé, M Lluch, L Vilageliu, D Grinberg, MJ Coll and the Spanish NPC Working Group

    Version of Record online : 6 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01504.x

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    NPC2 is expressed in human and murine liver and secreted into bile: Potential implications for body cholesterol homeostasis


    Volume 43, Issue 1, January 2006, Pages: 126–133, Andrés Klein, Ludwig Amigo, María José Retamal, María Gabriela Morales, Juan Francisco Miquel, Attilio Rigotti and Silvana Zanlungo

    Version of Record online : 22 DEC 2005, DOI: 10.1002/hep.20985

  13. You have free access to this content
    A Yeast Model System for Functional Analysis of the Niemann–Pick Type C Protein 1 Homolog, Ncr1p


    Volume 6, Issue 10, October 2005, Pages: 907–917, Adam C. Berger, Pamela K. Hanson, J. Wylie Nichols and Anita H. Corbett

    Version of Record online : 8 AUG 2005, DOI: 10.1111/j.1600-0854.2005.00327.x

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    The Cytosolic Adaptor AP-1A Is Essential for the Trafficking and Function of Niemann-Pick Type C Proteins


    Volume 14, Issue 4, April 2013, Pages: 458–469, Steve Poirier, Gaétan Mayer, Stephanie R. Murphy, William S. Garver, Ta Yuan Chang, Peter Schu and Nabil G. Seidah

    Version of Record online : 20 FEB 2013, DOI: 10.1111/tra.12046

  15. Adenovirus expressing an NPC1-GFP fusion gene corrects neuronal and nonneuronal defects associated with Niemann pick type C disease

    Journal of Neuroscience Research

    Volume 81, Issue 5, 1 September 2005, Pages: 706–719, C.A. Paul, P.C. Reid, A.K. Boegle, B. Karten, M. Zhang, Z.-G. Jiang, D. Franz, L. Lin, T.Y. Chang, J.E. Vance, J. Blanchette-Mackie and R.A. Maue

    Version of Record online : 13 JUL 2005, DOI: 10.1002/jnr.20592

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    Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease


    Volume 11, Issue 4, April 2010, Pages: 419–428, Emyr Lloyd-Evans and Frances M. Platt

    Version of Record online : 6 JAN 2010, DOI: 10.1111/j.1600-0854.2010.01032.x

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    Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment

    Biology of the Cell

    Volume 101, Issue 3, March 2009, Pages: 141–153, Marc Walter, Fannie W. Chen, Farshad Tamari, Rong Wang and Yiannis A. Ioannou

    Version of Record online : 3 JAN 2012, DOI: 10.1042/BC20070171

  18. Deficiency of Niemann-Pick C1 protein protects against diet-induced gallstone formation in mice

    Liver International

    Volume 30, Issue 6, July 2010, Pages: 887–897, María Gabriela Morales, Ludwig Amigo, Elisa Balboa, Mariana Acuña, Juan Castro, Héctor Molina, Juan Francisco Miquel, Flavio Nervi, Attilio Rigotti and Silvana Zanlungo

    Version of Record online : 8 APR 2010, DOI: 10.1111/j.1478-3231.2010.02230.x

  19. Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1


    Volume 16, Issue 1, January 2016, Pages: 150–158, Judit Macías-Vidal, Martina Guerrero-Hernández, Josep Maria Estanyol, Carmen Aguado, Erwin Knecht, Maria Josep Coll and Oriol Bachs

    Version of Record online : 15 DEC 2015, DOI: 10.1002/pmic.201500110

  20. Physiological and coordinate downregulation of the NPC1 and NPC2 genes are associated with the sequestration of LDL-derived cholesterol within endocytic compartments

    Journal of Cellular Biochemistry

    Volume 108, Issue 5, 1 December 2009, Pages: 1102–1116, David Jelinek, Sarah Mount Patrick, Khameeka N. Kitt, Teddy Chan, Gordon A. Francis and William S. Garver

    Version of Record online : 10 SEP 2009, DOI: 10.1002/jcb.22339