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Items: 1 to 20 of 583

1.
NPC1 controls TGFBR1 stability in a cholesterol transport-independent manner and promotes hepatocellular carcinoma progression
Shuangyan Li, Lishan Yan, Chaoying Li, Lijuan Lou, Fengjiao Cui, Xiao Yang, Fuchu He, Ying Jiang
Nat Commun. 2025; 16: 439. Published online 2025 Jan 7. doi: 10.1038/s41467-024-55788-5
PMCID:
PMC11704005
ArticlePDF–4.2M
2.
Deficiency in NPC2 results in disruption of mitochondria-late endosome/lysosomes contact sites and endo-lysosomal lipid dyshomeostasis
Raffaele Pastore, Lihang Yao, Nathan Hatcher, Martin Helley, Janet Brownlees, Radha Desai
Sci Rep. 2025; 15: 325. Published online 2025 Jan 2. doi: 10.1038/s41598-024-83460-x
PMCID:
PMC11696400
ArticlePDF–6.8M
3.
Impacts of APOE-ε4 and exercise training on brain microvascular endothelial cell barrier function and metabolism
Callie M. Weber, Bilal Moiz, Gabriel S. Pena, Marzyeh Kheradmand, Brooke Wunderler, Claire Kettula, Gurneet S. Sangha, J. Carson Smith, Alisa Morss Clyne
eBioMedicine. 2025 Jan; 111: 105487. Published online 2024 Dec 7. doi: 10.1016/j.ebiom.2024.105487
PMCID:
PMC11667009
ArticlePDF–3.6M
4.
Sphingolipid Levels and Processing of the Retinyl Chromophore in the Retina of a Mouse Model of Niemann-Pick Disease
Bushra Rahman, David M. G. Anderson, Chunhe Chen, Jian Liu, Lukasz G. Migas, Raf Van de Plas, Kevin L. Schey, Masahiro Kono, Jie Fan, Yiannis Koutalos
Invest Ophthalmol Vis Sci. 2024 Dec; 65(14): 24. Published online 2024 Dec 11. doi: 10.1167/iovs.65.14.24
PMCID:
PMC11640910
ArticlePDF–5.6M
5.
Evaluation of the safety and efficacy of miglustat for the treatment of Chinese patients with Niemann-Pick disease type C: A prospective, open-label, single-arm, phase IV trial
Huiwen Zhang, Hui Xiong, Cuijie Wei, Mengni Yi, Yufang Che, Jianmin Zhuo, Xueyu Li
Intractable Rare Dis Res. 2024 Nov 30; 13(4): 227–235. Published online 2024 Nov 30. doi: 10.5582/irdr.2024.01056
PMCID:
PMC11609035
ArticlePDF–806K
6.
Molecular Polymorphism of tau aggregates in Pick’s disease
Jiliang Liu, Theresa Connors Stewart, Bradley T. Hyman, Manfred Burghammer, Marine Cotte, Lee Makowski
Version 1. bioRxiv. Preprint. 2024 Nov 19. doi: 10.1101/2024.11.19.624253
PMCID:
PMC11601565
ArticlePDF–2.2M
7.
Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann–Pick Disease Type C
Meng Lu, Ernestine Hui, Marius Brockhoff, Jakob Träuble, Ana Fernandez‐Villegas, Oliver J Burton, Jacob Lamb, Edward Ward, Philippa J Woodhams, Wadood Tadbier, Nino F Läubli, Stephan Hofmann, Clemens F Kaminski, Antonio Lombardo, Gabriele S Kaminski Schierle
Adv Sci (Weinh) 2024 Nov; 11(44): 2402967. Published online 2024 Sep 28. doi: 10.1002/advs.202402967
PMCID:
PMC11600250
ArticlePDF–3.6M
8.
Plasma phosphorylated-tau217 is increased in Niemann–Pick disease type C
Fernando Gonzalez-Ortiz, Thomas K Karikari, Danielle Taylor-Te Vruchte, Dawn Shepherd, Bjørn-Eivind Kirsebom, Tormod Fladby, Frances Platt, Kaj Blennow
Brain Commun. 2024; 6(6): fcae375. Published online 2024 Oct 25. doi: 10.1093/braincomms/fcae375
PMCID:
PMC11535543
ArticlePDF–820K
9.
Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells
Masahiro Watanabe, Masamitsu Maekawa, Keitaro Miyoshi, Toshihiro Sato, Yu Sato, Masaki Kumondai, Masayoshi Fukasawa, Nariyasu Mano
Metabolites. 2024 Oct; 14(10): 515. Published online 2024 Sep 24. doi: 10.3390/metabo14100515
PMCID:
PMC11509386
ArticlePDF–1.5M
10.
Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2
Syed Mohammed, Ashikabanu Mujibur Rahman, Akshai R
Cureus. 2024 Sep; 16(9): e69506. Published online 2024 Sep 16. doi: 10.7759/cureus.69506
PMCID:
PMC11480928
ArticlePDF–2.0M
11.
NPC1 links cholesterol trafficking to microglial morphology via the gastrosome
Joanna Zareba, Elena F. Cattaneo, Ambra Villani, Alaa Othman, Sebastian Streb, Francesca Peri
Nat Commun. 2024; 15: 8638. Published online 2024 Oct 5. doi: 10.1038/s41467-024-52874-6
PMCID:
PMC11452621
ArticlePDF–5.5M
12.
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang
J Lipid Res. 2024 Aug; 65(8): 100600. Published online 2024 Jul 22. doi: 10.1016/j.jlr.2024.100600
PMCID:
PMC11367646
ArticlePDF–1.8M
13.
The Possible Associations between Tauopathies and Atherosclerosis, Diabetes Mellitus, Dyslipidemias, Metabolic Syndrome and Niemann–Pick Disease
Aleksandra Fryncel, Natalia Madetko-Alster, Zuzanna Krępa, Marek Kuch, Piotr Alster
Diagnostics (Basel) 2024 Aug; 14(16): 1831. Published online 2024 Aug 22. doi: 10.3390/diagnostics14161831
PMCID:
PMC11354139
ArticlePDF–907K
14.
CffDNA screening for Niemann–pick disease, type C1: a case series
Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M. Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Christine M. Eng, Malak Abedalthagafi
Front Med (Lausanne) 2024; 11: 1390693. Published online 2024 Aug 5. doi: 10.3389/fmed.2024.1390693
PMCID:
PMC11330825
ArticlePDF–189K
15.
Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B
Ye Li, Svetlana Cherepanoff, Adrian T. Fung
J Vitreoretin Dis. 2024 Jul-Aug; 8(4): 462–465. Published online 2024 May 9. doi: 10.1177/24741264241249411
PMCID:
PMC11323508
ArticlePDF–598K
16.
Acid sphingomyelinase deficiency in France: a retrospective survival study
Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group
Orphanet J Rare Dis. 2024; 19: 289. Published online 2024 Aug 5. doi: 10.1186/s13023-024-03234-6
PMCID:
PMC11301966
ArticlePDF–1.1M
17.
Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)
Sydney Stern, Karryn Crisamore, Robert Schuck, Michael Pacanowski
Orphanet J Rare Dis. 2024; 19: 280. Published online 2024 Jul 26. doi: 10.1186/s13023-024-03233-7
PMCID:
PMC11282650
ArticlePDF–1.5M
18.
G272V and P301L Mutations Induce Isoform Specific Tau Mislocalization to Dendritic Spines and Synaptic Dysfunctions in Cellular Models of 3R and 4R Tau Frontotemporal Dementia
Ke Yu, Katherine R. Yao, Miguel A. Aguinaga, Jessica M. Choquette, Chengliang Liu, Yuxin Wang, Dezhi Liao
J Neurosci. 2024 Jul 10; 44(28): e1215232024. Prepublished online 2024 Jun 10. doi: 10.1523/JNEUROSCI.1215-23.2024
PMCID:
PMC11236579
ArticlePDF–4.1M
19.
Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
Avani V. Mylvara, Alana L. Gibson, Tansy Gu, Cristin D. Davidson, Art A. Incao, Katerina Melnyk, Dominick Pierre-Jacques, Stephanie M. Cologna, Charles P. Venditti, Forbes D. Porter, William J. Pavan
Version 1. bioRxiv. Preprint. 2024 Jun 8. doi: 10.1101/2024.06.07.597901
PMCID:
PMC11185674
ArticlePDF–6.3M
20.
Chromosome 17-linked dementias
K. C. Wilhelmsen
Cell Mol Life Sci. 1998 Sep; 54(9): 920–924. Published online 2014 Feb 6. doi: 10.1007/s000180050221
PMCID:
PMC11147185
PDF–100K

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