Journal articles on the topic 'NPC1a'
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Phillips, S. E., E. A. Woodruff, P. Liang, M. Patten, and K. Broadie. "Neuronal Loss of Drosophila NPC1a Causes Cholesterol Aggregation and Age-Progressive Neurodegeneration." Journal of Neuroscience 28, no. 26 (June 25, 2008): 6569–82. http://dx.doi.org/10.1523/jneurosci.5529-07.2008.
Full textBialistoky, Tzofia, Diane Manry, Peyton Smith, Christopher Ng, Yunah Kim, Sol Zamir, Victoria Moyal, et al. "Functional analysis of Niemann-Pick disease type C family protein, NPC1a, in Drosophila melanogaster." Development 146, no. 10 (May 15, 2019): dev168427. http://dx.doi.org/10.1242/dev.168427.
Full textAntipova, Veronica, Lisa-Marie Steinhoff, Carsten Holzmann, Arndt Rolfs, Carlos Junior Hempel, Martin Witt, and Andreas Wree. "Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches." International Journal of Molecular Sciences 24, no. 1 (December 29, 2022): 573. http://dx.doi.org/10.3390/ijms24010573.
Full textKo, Dennis C., Michael D. Gordon, Janet Y. Jin, and Matthew P. Scott. "Dynamic Movements of Organelles Containing Niemann-Pick C1 Protein: NPC1 Involvement in Late Endocytic Events." Molecular Biology of the Cell 12, no. 3 (March 2001): 601–14. http://dx.doi.org/10.1091/mbc.12.3.601.
Full textCawley, Niamh X., Anna T. Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A. Wassif, Joan E. Bailey-Wilson, and Forbes D. Porter. "Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology." International Journal of Molecular Sciences 23, no. 9 (May 3, 2022): 5082. http://dx.doi.org/10.3390/ijms23095082.
Full textDardis, Andrea, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, et al. "Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants." Journal of Clinical Medicine 9, no. 3 (March 3, 2020): 679. http://dx.doi.org/10.3390/jcm9030679.
Full textCastillo, Joseph J., David Jelinek, Hao Wei, Nicholas P. Gannon, Roger A. Vaughan, L. John Horwood, F. John Meaney, et al. "The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways." American Journal of Physiology-Endocrinology and Metabolism 313, no. 2 (August 1, 2017): E183—E194. http://dx.doi.org/10.1152/ajpendo.00369.2016.
Full textLi, Xiaochun, Piyali Saha, Jian Li, Günter Blobel, and Suzanne R. Pfeffer. "Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2." Proceedings of the National Academy of Sciences 113, no. 36 (August 22, 2016): 10079–84. http://dx.doi.org/10.1073/pnas.1611956113.
Full textMeneses-Salas, Elsa, Ana García-Melero, Patricia Blanco-Muñoz, Jaimy Jose, Marie-Sophie Brenner, Albert Lu, Francesc Tebar, Thomas Grewal, Carles Rentero, and Carlos Enrich. "Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells." Cells 9, no. 5 (May 7, 2020): 1152. http://dx.doi.org/10.3390/cells9051152.
Full textGläser, Anne, Franziska Hammerl, Markus H. Gräler, Sina M. Coldewey, Christin Völkner, Moritz J. Frech, Fan Yang, et al. "Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism." International Journal of Molecular Sciences 21, no. 12 (June 24, 2020): 4502. http://dx.doi.org/10.3390/ijms21124502.
Full textWitt, Martin, René Thiemer, Anja Meyer, Oliver Schmitt, and Andreas Wree. "Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1." International Journal of Molecular Sciences 19, no. 11 (November 12, 2018): 3563. http://dx.doi.org/10.3390/ijms19113563.
Full textVölkner, Christin, Maik Liedtke, Andreas Hermann, and Moritz J. Frech. "Pluripotent Stem Cells for Disease Modeling and Drug Discovery in Niemann-Pick Type C1." International Journal of Molecular Sciences 22, no. 2 (January 12, 2021): 710. http://dx.doi.org/10.3390/ijms22020710.
Full textPathmasiri, Koralege C., Melissa R. Pergande, Fernando Tobias, Rima Rebiai, Avia Rosenhouse-Dantsker, Ernesto R. Bongarzone, and Stephanie M. Cologna. "Mass spectrometry imaging and LC/MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice." Journal of Lipid Research 61, no. 7 (May 5, 2020): 1004–13. http://dx.doi.org/10.1194/jlr.ra119000606.
Full textO’Neill, Kathleen I., Li-Wei Kuo, Michelle M. Williams, Hanne Lind, Lyndsey S. Crump, Nia G. Hammond, Nicole S. Spoelstra, Cecilia M. Caino, and Jennifer K. Richer. "NPC1 Confers Metabolic Flexibility in Triple Negative Breast Cancer." Cancers 14, no. 14 (July 21, 2022): 3543. http://dx.doi.org/10.3390/cancers14143543.
Full textJürs, Alexandra V., Christin Völkner, Maik Liedtke, Katharina Huth, Jan Lukas, Andreas Hermann, and Moritz J. Frech. "Oxidative Stress and Alterations in the Antioxidative Defense System in Neuronal Cells Derived from NPC1 Patient-Specific Induced Pluripotent Stem Cells." International Journal of Molecular Sciences 21, no. 20 (October 16, 2020): 7667. http://dx.doi.org/10.3390/ijms21207667.
Full textRabenstein, Michael, Nico Murr, Andreas Hermann, Arndt Rolfs, and Moritz J. Frech. "Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice." International Journal of Molecular Sciences 20, no. 24 (December 13, 2019): 6288. http://dx.doi.org/10.3390/ijms20246288.
Full textLin, Yusheng, Xiaolian Cai, Guiping Wang, Gang Ouyang, and Hong Cao. "Model construction of Niemann-Pick type C disease in zebrafish." Biological Chemistry 399, no. 8 (July 26, 2018): 903–10. http://dx.doi.org/10.1515/hsz-2018-0118.
Full textRodriguez-Gil, Jorge L., Dawn E. Watkins-Chow, Laura L. Baxter, Tadafumi Yokoyama, Patricia M. Zerfas, Matthew F. Starost, William A. Gahl, et al. "NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology." Journal of Clinical Medicine 9, no. 1 (December 19, 2019): 12. http://dx.doi.org/10.3390/jcm9010012.
Full textInfante, Rodney E., Michael L. Wang, Arun Radhakrishnan, Hyock Joo Kwon, Michael S. Brown, and Joseph L. Goldstein. "NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes." Proceedings of the National Academy of Sciences 105, no. 40 (September 4, 2008): 15287–92. http://dx.doi.org/10.1073/pnas.0807328105.
Full textHolzmann, Carsten, Martin Witt, Arndt Rolfs, Veronica Antipova, and Andreas Wree. "Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1." International Journal of Molecular Sciences 22, no. 5 (March 3, 2021): 2539. http://dx.doi.org/10.3390/ijms22052539.
Full textOrtega-Gonzalez, Paula, Gwen Taylor, Rohit K. Jangra, Raquel Tenorio, Isabel Fernandez de Castro, Bernardo A. Mainou, Robert C. Orchard, et al. "Reovirus infection is regulated by NPC1 and endosomal cholesterol homeostasis." PLOS Pathogens 18, no. 3 (March 9, 2022): e1010322. http://dx.doi.org/10.1371/journal.ppat.1010322.
Full textHarskamp, Jessica C., Joya E. Nahon, Andrea M. Siegel, Hans L. Vos, Piëette P. Deutz-Terlouw, J. Hendrik Veelken, J. H. Frederik Falkenburg, and Erik W. A. Marijt. "Quantitative Monitoring of NPM1A Mutations Can Be Used to Guide Immunotherapeutic Interventions After Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia." Blood 118, no. 21 (November 18, 2011): 3061. http://dx.doi.org/10.1182/blood.v118.21.3061.3061.
Full textIgarashi, Manabu, Takatsugu Hirokawa, Yoshihiro Takadate, and Ayato Takada. "Structural Insights into the Interaction of Filovirus Glycoproteins with the Endosomal Receptor Niemann-Pick C1: A Computational Study." Viruses 13, no. 5 (May 14, 2021): 913. http://dx.doi.org/10.3390/v13050913.
Full textWilliams, Isabelle, Sumeet Pandey, Wolfram Haller, Hien Quoc Huynh, Alicia Chan, Gesche Düeker, Ruth Bettels, et al. "Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C." Wellcome Open Research 7 (January 11, 2022): 11. http://dx.doi.org/10.12688/wellcomeopenres.16986.1.
Full textSeker Yilmaz, Berna, Julien Baruteau, Ahad A. Rahim, and Paul Gissen. "Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease." International Journal of Molecular Sciences 21, no. 14 (July 17, 2020): 5059. http://dx.doi.org/10.3390/ijms21145059.
Full textPergande, Melissa, Antony Cougnoux, Rathnayake Rathnayake, Forbes Porter, and Stephanie Cologna. "Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model." Molecules 24, no. 5 (March 12, 2019): 994. http://dx.doi.org/10.3390/molecules24050994.
Full textRoth, Sebastian, Henrik Fox, René M’Pembele, Michiel Morshuis, Giovanna Lurati Buse, Markus W. Hollmann, Ragnar Huhn, and Thomas Bitter. "Noninvasive evaluation of the hemodynamic status in patients after heart transplantation or left ventricular assist device implantation." PLOS ONE 17, no. 10 (October 14, 2022): e0275977. http://dx.doi.org/10.1371/journal.pone.0275977.
Full textDominko, Kristina, Ana Rastija, Sandra Sobocanec, Lea Vidatic, Sarah Meglaj, Andrea Lovincic Babic, Birgit Hutter-Paier, et al. "Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation." International Journal of Molecular Sciences 22, no. 24 (December 9, 2021): 13256. http://dx.doi.org/10.3390/ijms222413256.
Full textTakadate, Yoshihiro, Rashid Manzoor, Takeshi Saito, Yurie Kida, Junki Maruyama, Tatsunari Kondoh, Hiroko Miyamoto, et al. "Receptor-Mediated Host Cell Preference of a Bat-Derived Filovirus, Lloviu Virus." Microorganisms 8, no. 10 (October 5, 2020): 1530. http://dx.doi.org/10.3390/microorganisms8101530.
Full textChen, Oscar C. W., Stephan Siebel, Alexandria Colaco, Elena-Raluca Nicoli, Nick Platt, Dawn Shepherd, Stephanie Newman, et al. "Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1." Wellcome Open Research 7 (October 20, 2022): 267. http://dx.doi.org/10.12688/wellcomeopenres.17261.1.
Full textInfante, Rodney E., Lina Abi-Mosleh, Arun Radhakrishnan, Jarrod D. Dale, Michael S. Brown, and Joseph L. Goldstein. "Purified NPC1 Protein." Journal of Biological Chemistry 283, no. 2 (November 6, 2007): 1052–63. http://dx.doi.org/10.1074/jbc.m707943200.
Full textInfante, Rodney E., Arun Radhakrishnan, Lina Abi-Mosleh, Lisa N. Kinch, Michael L. Wang, Nick V. Grishin, Joseph L. Goldstein, and Michael S. Brown. "Purified NPC1 Protein." Journal of Biological Chemistry 283, no. 2 (November 6, 2007): 1064–75. http://dx.doi.org/10.1074/jbc.m707944200.
Full textAbelev, M. M., V. V. Dolganev, E. �. Kossovskaya, and M. A. Yastrebova. "Properties and use of NP1A-ID and NP1A nickel tubes." Chemical and Petroleum Engineering 28, no. 4 (April 1992): 268–70. http://dx.doi.org/10.1007/bf01148624.
Full textColaco, Alexandria, María E. Fernández-Suárez, Dawn Shepherd, Lihi Gal, Chen Bibi, Silvia Chuartzman, Alan Diot, et al. "Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C." Life Science Alliance 3, no. 7 (June 2, 2020): e201800253. http://dx.doi.org/10.26508/lsa.201800253.
Full textKARTEN, Barbara, Hideki HAYASHI, Gordon A. FRANCIS, Robert B. CAMPENOT, Dennis E. VANCE, and Jean E. VANCE. "Generation and function of astroglial lipoproteins from Niemann–Pick type C1-deficient mice." Biochemical Journal 387, no. 3 (April 26, 2005): 779–88. http://dx.doi.org/10.1042/bj20041694.
Full textCougnoux, Antony, Julia C. Yerger, Mason Fellmeth, Jenny Serra-Vinardell, Kyle Martin, Fatemeh Navid, James Iben, Christopher A. Wassif, Niamh X. Cawley, and Forbes D. Porter. "Single Cell Transcriptome Analysis of Niemann–Pick Disease, Type C1 Cerebella." International Journal of Molecular Sciences 21, no. 15 (July 28, 2020): 5368. http://dx.doi.org/10.3390/ijms21155368.
Full textLi, Jian, Maika S. Deffieu, Peter L. Lee, Piyali Saha, and Suzanne R. Pfeffer. "Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells." Proceedings of the National Academy of Sciences 112, no. 48 (November 17, 2015): 14876–81. http://dx.doi.org/10.1073/pnas.1520490112.
Full textYu, Daozhan, Manju Swaroop, Mengqiao Wang, Ulrich Baxa, Rongze Yang, Yiping Yan, Turhan Coksaygan, et al. "Niemann–Pick Disease Type C." Journal of Biomolecular Screening 19, no. 8 (June 6, 2014): 1164–73. http://dx.doi.org/10.1177/1087057114537378.
Full textNewton, Jason, Elisa N. D. Palladino, Cynthia Weigel, Michael Maceyka, Markus H. Gräler, Can E. Senkal, Ricardo D. Enriz, et al. "Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation." Journal of Biological Chemistry 295, no. 27 (May 8, 2020): 9121–33. http://dx.doi.org/10.1074/jbc.ra120.012659.
Full textWang, Chao, Samantha M. Scott, Shuhong Sun, Pei Zhao, Darren M. Hutt, Hao Shao, Jason E. Gestwicki, and William E. Balch. "Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system." Human Molecular Genetics 29, no. 1 (September 11, 2019): 1–19. http://dx.doi.org/10.1093/hmg/ddz215.
Full textDavidson, Cristin D., Alana L. Gibson, Tansy Gu, Laura L. Baxter, Benjamin E. Deverman, Keith Beadle, Arturo A. Incao, et al. "Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice." Life Science Alliance 4, no. 10 (August 18, 2021): e202101040. http://dx.doi.org/10.26508/lsa.202101040.
Full textHodošček, Milan, and Nadia Elghobashi-Meinhardt. "Simulations of NPC1(NTD):NPC2 Protein Complex Reveal Cholesterol Transfer Pathways." International Journal of Molecular Sciences 19, no. 9 (September 4, 2018): 2623. http://dx.doi.org/10.3390/ijms19092623.
Full textDu, Ximing, Jaspal Kumar, Charles Ferguson, Timothy A. Schulz, Yan Shan Ong, Wanjin Hong, William A. Prinz, Robert G. Parton, Andrew J. Brown, and Hongyuan Yang. "A role for oxysterol-binding protein–related protein 5 in endosomal cholesterol trafficking." Journal of Cell Biology 192, no. 1 (January 10, 2011): 121–35. http://dx.doi.org/10.1083/jcb.201004142.
Full textO’Neill, Kathleen. "Triple Negative Breast Cancer is Dependent on the Lysosomal Cholesterol Transporter NPC1." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A1034. http://dx.doi.org/10.1210/jendso/bvab048.2116.
Full textChen, Fannie W., Ronald E. Gordon, and Yiannis A. Ioannou. "NPC1 late endosomes contain elevated levels of non-esterified (‘free’) fatty acids and an abnormally glycosylated form of the NPC2 protein." Biochemical Journal 390, no. 2 (August 23, 2005): 549–61. http://dx.doi.org/10.1042/bj20050236.
Full textTiscione, Scott A., Oscar Vivas, Kenneth S. Ginsburg, Donald M. Bers, Daniel S. Ory, Luis F. Santana, Rose E. Dixon, and Eamonn J. Dickson. "Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity." Journal of Cell Biology 218, no. 12 (October 10, 2019): 4141–56. http://dx.doi.org/10.1083/jcb.201903018.
Full textKondoh, Tatsunari, Michael Letko, Vincent J. Munster, Rashid Manzoor, Junki Maruyama, Wakako Furuyama, Hiroko Miyamoto, et al. "Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells." Journal of Infectious Diseases 218, suppl_5 (July 14, 2018): S397—S402. http://dx.doi.org/10.1093/infdis/jiy248.
Full textLi, Xiaochun, Jiawei Wang, Elias Coutavas, Hang Shi, Qi Hao, and Günter Blobel. "Structure of human Niemann–Pick C1 protein." Proceedings of the National Academy of Sciences 113, no. 29 (June 15, 2016): 8212–17. http://dx.doi.org/10.1073/pnas.1607795113.
Full textFukaura, Madoka, Yoichi Ishitsuka, Seiichi Shirakawa, Naoki Ushihama, Yusei Yamada, Yuki Kondo, Toru Takeo, et al. "Intracerebroventricular Treatment with 2-Hydroxypropyl-β-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann–Pick Disease Type C Model Mice." International Journal of Molecular Sciences 22, no. 1 (January 5, 2021): 452. http://dx.doi.org/10.3390/ijms22010452.
Full textCianciola, Nicholas L., Diane J. Greene, Richard E. Morton, and Cathleen R. Carlin. "Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1." Molecular Biology of the Cell 24, no. 21 (November 2013): 3309–25. http://dx.doi.org/10.1091/mbc.e12-10-0760.
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