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Select item 106889651.

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

Abstract Article PDF–5.3M

Select item 98203762.

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

Abstract Article PDF–9.3M

Select item 97132823.

Heat shock protein amplification improves cerebellar myelination in the Npc1^nih 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

Abstract Article PDF–2.6M

Select item 87057854.

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

Abstract Article PDF–7.3M

Select item 85554715.

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

Abstract Article PDF–4.3M

Select item 84178736.

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

Abstract Article PDF–1.4M

Select item 81376717.

Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C

Joseph C Roney, Sunan Li, Tamar Farfel-Becker, Ning Huang, Tao Sun, Yuxiang Xie, Xiu-Tang Cheng, Mei-Yao Lin, Frances M Platt, Zu-Hang Sheng

Dev Cell. Author manuscript; available in PMC 2022 May 17.

Published in final edited form as: Dev Cell. 2021 May 17; 56(10): 1452–1468.e8. Published online 2021 Apr 19. doi: 10.1016/j.devcel.2021.03.032

PMCID:: PMC8137671

Abstract Article PDF–4.1M

Select item 80367108.

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

Christian Griñán-Ferré, Júlia Companys-Alemany, Júlia Jarné-Ferrer, Sandra Codony, Celia González-Castillo, Daniel Ortuño-Sahagún, Lluïsa Vilageliu, Daniel Grinberg, Santiago Vázquez, Mercè Pallàs

Int J Mol Sci. 2021 Apr; 22(7): 3409. Published online 2021 Mar 26. doi: 10.3390/ijms22073409

PMCID:: PMC8036710

Abstract Article PDF–1.5M

Select item 76453699.

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

Adrián Bartoll, Ana Toledano‐Zaragoza, Josefina Casas, Manuel Guzmán, Edward H Schuchman, María Dolores Ledesma

EMBO Mol Med. 2020 Nov 6; 12(11): e11776. Published online 2020 Oct 5. doi: 10.15252/emmm.201911776

PMCID:: PMC7645369

Abstract Article PDF–3.4M

Select item 749701110.

Sex‐opposed inflammatory effects of 27‐hydroxycholesterol are mediated via differences in estrogen signaling

Tom Houben, Albert V Bitorina, Yvonne Oligschlaeger, Mike LJ Jeurissen, Sander Rensen, S Eleonore Köhler, Marit Westerterp, Dieter Lütjohann, Jan Theys, Andrea Romano, Jogchum Plat, Ronit Shiri‐Sverdlov

J Pathol. 2020 Aug; 251(4): 429–439. Published online 2020 Jul 7. doi: 10.1002/path.5477

PMCID:: PMC7497011

Abstract Article PDF–773K

Select item 742084111.

NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann–Pick disease type C

Bridget R. Boyle, Sierra E. Melli, Ruth S. Altreche, Zachary M. Padron, Fawad A. K. Yousufzai, Sarah Kim, Mariella D. Vasquez, Dawn M. Carone, Benjamin R. Carone, Ileana Soto

Development. 2020 Nov 1; 147(21): dev189019. Published online 2020 Aug 3. doi: 10.1242/dev.189019

PMCID:: PMC7420841

Abstract Article

Select item 741490412.

Plasmid DNA gene therapy of the Niemann-Pick C1 mouse with transferrin receptor-targeted Trojan horse liposomes

Dahai Jiang, Hungyen Lee, William M. Pardridge

Sci Rep. 2020; 10: 13334. Published online 2020 Aug 7. doi: 10.1038/s41598-020-70290-w

PMCID:: PMC7414904

Abstract Article PDF–2.8M

Select item 732805013.

Mass spectrometry imaging and LC/MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice

Koralege C. Pathmasiri, Melissa R. Pergande, Fernando Tobias, Rima Rebiai, Avia Rosenhouse-Dantsker, Ernesto R. Bongarzone, Stephanie M. Cologna

J Lipid Res. 2020 Jul; 61(7): 1004–1013. Published online 2020 May 5. doi: 10.1194/jlr.RA119000606

PMCID:: PMC7328050

Abstract Article PDF–1.1M

Select item 707506914.

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan

Dis Model Mech. 2020 Mar 1; 13(3): dmm042614. Published online 2020 Mar 13. doi: 10.1242/dmm.042614

PMCID:: PMC7075069

Abstract Article

Select item 694074115.

Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice

Michael Rabenstein, Nico Murr, Andreas Hermann, Arndt Rolfs, Moritz J. Frech

Int J Mol Sci. 2019 Dec; 20(24): 6288. Published online 2019 Dec 13. doi: 10.3390/ijms20246288

PMCID:: PMC6940741

Abstract Article PDF–3.1M

Select item 683210216.

NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation

Daniel N Mitroi, Guadalupe Pereyra‐Gómez, Beatriz Soto‐Huelin, Fernando Senovilla, Toshihide Kobayashi, Jose A Esteban, María Dolores Ledesma

EMBO Rep. 2019 Nov 5; 20(11): e48143. Published online 2019 Sep 18. doi: 10.15252/embr.201948143

PMCID:: PMC6832102

Abstract Article PDF–5.2M

Select item 678898217.

Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C

Larisa Kavetsky, Kayla K. Green, Bridget R. Boyle, Fawad A. K. Yousufzai, Zachary M. Padron, Sierra E. Melli, Victoria L. Kuhnel, Harriet M. Jackson, Rosa E. Blanco, Gareth R. Howell, Ileana Soto

Sci Rep. 2019; 9: 14722. Published online 2019 Oct 11. doi: 10.1038/s41598-019-51246-1