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Items: 1 to 20 of 196

1.
Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function
Marietta Fabiano, Naoto Oikawa, Anja Kerksiek, Jun-ichi Furukawa, Hirokazu Yagi, Koichi Kato, Ulrich Schweizer, Wim Annaert, Jongkyun Kang, Jie Shen, Dieter Lütjohann, Jochen Walter
Int J Mol Sci. 2024 May; 25(10): 5417. Published online 2024 May 16. doi: 10.3390/ijms25105417
PMCID:
PMC11121565
AbstractArticlePDF–3.7M
2.
NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover
Bei Liu, Duanyi Hua, Linyan Shen, Tingting Li, Zheying Tao, Chenyang Fu, Zhongzheng Tang, Jie Yang, Li Zhang, Aifang Nie, Yiran Jiang, Jiqiu Wang, Yang Li, Yanyun Gu, Guang Ning
Theranostics. 2024; 14(5): 2058–2074. Published online 2024 Feb 24. doi: 10.7150/thno.90946
PMCID:
PMC10945349
AbstractArticlePDF–9.7M
3.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
4.
Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo
Collin M. MacLeod, Fawad A. K. Yousufzai, Liam T. Spencer, Sarah Kim, Lucianne A. Rivera-Rosario, Zerian D. Barrera, Lindsay Walsh, Claude Krummenacher, Benjamin Carone, Ileana Soto
PLoS One. 2023; 18(11): e0294312. Published online 2023 Nov 30. doi: 10.1371/journal.pone.0294312
PMCID:
PMC10688965
AbstractArticlePDF–5.3M
5.
The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells
Thaddeus J. Kunkel, Alice Townsend, Kyle A. Sullivan, Jean Merlet, Edward H. Schuchman, Daniel A. Jacobson, Andrew P. Lieberman
Nat Commun. 2023; 14: 3964. Published online 2023 Jul 5. doi: 10.1038/s41467-023-39733-6
PMCID:
PMC10322873
AbstractArticlePDF–9.1M
6.
Peripheral immune system modulates Purkinje cell degeneration in Niemann–Pick disease type C1
Toru Yasuda, Toru Uchiyama, Nobuyuki Watanabe, Noriko Ito, Kazuhiko Nakabayashi, Hideki Mochizuki, Masafumi Onodera
Life Sci Alliance. 2023 Sep; 6(9): e202201881. Published online 2023 Jun 27. doi: 10.26508/lsa.202201881
PMCID:
PMC10300197
AbstractArticlePDF–4.6M
7.
Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease
Sarah Kim, Kathleen Ochoa, Sierra E. Melli, Fawad A. K. Yousufzai, Zerian D. Barrera, Aela A. Williams, Gianna McIntyre, Esteban Delgado, James N. Bolish, Collin M. Macleod, Mary Boghos, Hayden P. Lens, Alex G. Ramos, Vincent B. Wilson, Kelly Maloney, Zachary M. Padron, Amaal H. Khan, Rosa E. Blanco, Ileana Soto
Sci Rep. 2023; 13: 5665. Published online 2023 Apr 6. doi: 10.1038/s41598-023-32971-0
PMCID:
PMC10079843
AbstractArticlePDF–16M
8.
Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
Veronica Antipova, Lisa-Marie Steinhoff, Carsten Holzmann, Arndt Rolfs, Carlos Junior Hempel, Martin Witt, Andreas Wree
Int J Mol Sci. 2023 Jan; 24(1): 573. Published online 2022 Dec 29. doi: 10.3390/ijms24010573
PMCID:
PMC9820376
AbstractArticlePDF–9.3M
9.
Heat shock protein amplification improves cerebellar myelination in the Npc1nih mouse model
James Gray, María E. Fernández-Suárez, Maysa Falah, David Smith, Claire Smith, Ecem Kaya, Ashley M. Palmer, Cathrine K. Fog, Thomas Kirkegaard, Frances M. Platt
eBioMedicine. 2022 Dec; 86: 104374. Published online 2022 Nov 28. doi: 10.1016/j.ebiom.2022.104374
PMCID:
PMC9713282
AbstractArticlePDF–2.6M
10.
Interruption of post-Golgi STING trafficking activates tonic interferon signaling
Xintao Tu, Ting-Ting Chu, Devon Jeltema, Kennady Abbott, Kun Yang, Cong Xing, Jie Han, Nicole Dobbs, Nan Yan
Nat Commun. 2022; 13: 6977. Published online 2022 Nov 15. doi: 10.1038/s41467-022-33765-0
PMCID:
PMC9666523
AbstractArticlePDF–5.6M
11.
Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction
Fannie W. Chen, Joanna P. Davies, Raul Calvo, Jagruti Chaudhari, Georgia Dolios, Mercedes K. Taylor, Samarjit Patnaik, Jean Dehdashti, Rebecca Mull, Patricia Dranchack, Amy Wang, Xin Xu, Emma Hughes, Noel Southall, Marc Ferrer, Rong Wang, Juan J. Marugan, Yiannis A. Ioannou
iScience. 2022 Sep 16; 25(9): 104941. Published online 2022 Aug 14. doi: 10.1016/j.isci.2022.104941
PMCID:
PMC9440283
AbstractArticlePDF–5.5M
12.
Acat1/Soat1 knockout extends the mutant Npc1 mouse lifespan and ameliorates functional deficiencies in multiple organelles of mutant cells
Maximillian A. Rogers, Catherine C. Y. Chang, Robert A. Maue, Elaina M. Melton, Andrew A. Peden, William S. Garver, Junghoon Lee, Peter Schroen, Mitchell Huang, Ta-Yuan Chang
Proc Natl Acad Sci U S A. 2022 May 3; 119(18): e2201646119. Published online 2022 May 4. doi: 10.1073/pnas.2201646119
PMCID:
PMC9170141
AbstractArticlePDF–2.7M
13.
Complex N-Linked Glycosylation: A Potential Modifier of Niemann–Pick Disease, Type C1 Pathology
Niamh X. Cawley, Anna T. Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A. Wassif, Joan E. Bailey-Wilson, Forbes D. Porter
Int J Mol Sci. 2022 May; 23(9): 5082. Published online 2022 May 3. doi: 10.3390/ijms23095082
PMCID:
PMC9103943
AbstractArticlePDF–4.5M
14.
NPC1-mTORC1 signaling Couples Cholesterol Sensing to Organelle Homeostasis and is a Targetable Pathway in Niemann-Pick type C
Oliver B. Davis, Hijai R. Shin, Chun-Yan Lim, Emma Y. Wu, Matthew Kukurugya, Claire F. Maher, Rushika M. Perera, M. Paulina Ordonez, Roberto Zoncu
Dev Cell. Author manuscript; available in PMC 2022 Mar 14.
Published in final edited form as: Dev Cell. 2021 Feb 8; 56(3): 260–276.e7. Published online 2020 Dec 11. doi: 10.1016/j.devcel.2020.11.016
PMCID:
PMC8919971
AbstractArticlePDF–3.1M
15.
Tonic prime-boost of STING signalling mediates Niemann–Pick disease type C
Ting-Ting Chu, Xintao Tu, Kun Yang, Jianjun Wu, Joyce J. Repa, Nan Yan
Nature. Author manuscript; available in PMC 2022 Feb 21.
Published in final edited form as: Nature. 2021 Aug; 596(7873): 570–575. Published online 2021 Jul 21. doi: 10.1038/s41586-021-03762-2
PMCID:
PMC8859990
AbstractArticlePDF–5.6M
16.
Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation
Kristina Dominko, Ana Rastija, Sandra Sobocanec, Lea Vidatic, Sarah Meglaj, Andrea Lovincic Babic, Birgit Hutter-Paier, Alessio-Vittorio Colombo, Stefan F. Lichtenthaler, Sabina Tahirovic, Silva Hecimovic
Int J Mol Sci. 2021 Dec; 22(24): 13256. Published online 2021 Dec 9. doi: 10.3390/ijms222413256
PMCID:
PMC8705785
AbstractArticlePDF–7.3M
17.
Global mapping of Salmonella enterica-host protein-protein interactions during infection
Philipp Walch, Joel Selkrig, Leigh A. Knodler, Mandy Rettel, Frank Stein, Keith Fernandez, Cristina Viéitez, Clément M. Potel, Karoline Scholzen, Matthias Geyer, Klemens Rottner, Olivia Steele-Mortimer, Mikhail M. Savitski, David W. Holden, Athanasios Typas
Cell Host Microbe. Author manuscript; available in PMC 2022 Aug 11.
Published in final edited form as: Cell Host Microbe. 2021 Aug 11; 29(8): 1316–1332.e12. Published online 2021 Jul 7. doi: 10.1016/j.chom.2021.06.004
PMCID:
PMC8561747
AbstractArticlePDF–3.6M
18.
Involvement of the Choroid Plexus in the Pathogenesis of Niemann-Pick Disease Type C
Lien Van Hoecke, Caroline Van Cauwenberghe, Kristina Dominko, Griet Van Imschoot, Elien Van Wonterghem, Jonas Castelein, Junhua Xie, Wouter Claeys, Charysse Vandendriessche, Anna Kremer, Peter Borghgraef, Riet De Rycke, Silva Hecimovic, Roosmarijn E. Vandenbroucke
Front Cell Neurosci. 2021; 15: 757482. Published online 2021 Oct 15. doi: 10.3389/fncel.2021.757482
PMCID:
PMC8555471
AbstractArticlePDF–4.3M
19.
Pro-Inflammatory Implications of 2-Hydroxypropyl-β-cyclodextrin Treatment
Tom Houben, Tulasi Yadati, Robbin de Kruijf, Marion J. J. Gijbels, Joost J. F. P. Luiken, Marc van Zandvoort, Dimitris Kapsokalyvas, Dieter Lütjohann, Marit Westerterp, Jogchum Plat, David Leake, Ronit Shiri-Sverdlov
Front Immunol. 2021; 12: 716357. Published online 2021 Aug 20. doi: 10.3389/fimmu.2021.716357
PMCID:
PMC8417873
AbstractArticlePDF–1.4M
20.
Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage
Olga Ilnytska, Kimberly Lai, Kirill Gorshkov, Mark L. Schultz, Bruce Nguyen Tran, Maciej Jeziorek, Thaddeus J. Kunkel, Ruth D. Azaria, Hayley S. McLoughlin, Miriam Waghalter, Yang Xu, Michael Schlame, Nihal Altan-Bonnet, Wei Zheng, Andrew P. Lieberman, Radek Dobrowolski, Judith Storch
J Biol Chem. 2021 Jul; 297(1): 100813. Published online 2021 May 21. doi: 10.1016/j.jbc.2021.100813
PMCID:
PMC8294588
AbstractArticlePDF–4.8M

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