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Items: 1 to 20 of 96

1.
Neither alpha-synuclein fibril strain nor host murine genotype influences seeding efficacy
Sara Walton, Alexis Fenyi, Tyler Tittle, Ellen Sidransky, Gian Pal, Solji Choi, Ronald Melki, Bryan A. Killinger, Jeffrey H. Kordower
NPJ Parkinsons Dis. 2024; 10: 105. Published online 2024 May 21. doi: 10.1038/s41531-024-00679-1
PMCID:
PMC11109094
AbstractArticlePDF–2.4M
2.
GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice
Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cescon
Mol Neurodegener. 2024; 19: 22. Published online 2024 Mar 7. doi: 10.1186/s13024-024-00713-z
PMCID:
PMC10921719
AbstractArticlePDF–4.1M
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.
A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease
Makaila L. Furderer, Bahafta Berhe, Tiffany C. Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
Int J Mol Sci. 2024 Feb; 25(3): 1827. Published online 2024 Feb 2. doi: 10.3390/ijms25031827
PMCID:
PMC10855869
AbstractArticlePDF–5.2M
5.
Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity
Tatiana Usenko, Anastasia Bezrukova, Margarita M. Rudenok, Katerina Basharova, Maria I. Shadrina, Petr A. Slominsky, Ekaterina Zakharova, Sofya Pchelina
Int J Mol Sci. 2023 Aug; 24(15): 12164. Published online 2023 Jul 29. doi: 10.3390/ijms241512164
PMCID:
PMC10418497
AbstractArticlePDF–5.5M
6.
Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia
Nat Commun. 2023; 14: 2057. Published online 2023 Apr 12. doi: 10.1038/s41467-023-37632-4
PMCID:
PMC10097658
AbstractArticlePDF–3.6M
7.
Treatment of a genetic brain disease by CNS-wide microglia replacement
Yohei Shibuya, Kevin K Kumar, Marius Marc-Daniel Mader, Yongjin Yoo, Luis Angel Ayala, Mu Zhou, Manuel Alexander Mohr, Gernot Neumayer, Ishan Kumar, Ryo Yamamoto, Paul Marcoux, Benjamin Liou, F Chris Bennett, Hiromitsu Nakauchi, Ying Sun, Xiaoke Chen, Frank L. Heppner, Tony Wyss-Coray, Thomas C. Südhof, Marius Wernig
Sci Transl Med. Author manuscript; available in PMC 2022 Oct 30.
Published in final edited form as: Sci Transl Med. 2022 Mar 16; 14(636): eabl9945. Published online 2022 Mar 16. doi: 10.1126/scitranslmed.abl9945
PMCID:
PMC9618306
AbstractArticlePDF–4.1M
8.
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy
Chandra Sekhar Boddupalli, Shiny Nair, Glenn Belinsky, Joseph Gans, Erin Teeple, Tri-Hung Nguyen, Sameet Mehta, Lilu Guo, Martin L Kramer, Jiapeng Ruan, Honggge Wang, Matthew Davison, Dinesh Kumar, DJ Vidyadhara, Bailin Zhang, Katherine Klinger, Pramod K Mistry
eLife. 2022; 11: e79830. Published online 2022 Aug 16. doi: 10.7554/eLife.79830
PMCID:
PMC9381039
AbstractArticlePDF–4.9M
9.
Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation
Jia-ni Guo, Ming Guan, Nan Jiang, Na Li, Ya-jun Li, Jin Zhang, Duan Ma
Front Genet. 2022; 13: 892457. Published online 2022 May 27. doi: 10.3389/fgene.2022.892457
PMCID:
PMC9196271
AbstractArticlePDF–1.9M
10.
Validation of a multiplexed and targeted lipidomics assay for accurate quantification of lipidomes
Nanyan Rena Zhang, Nathan G. Hatcher, Kim Ekroos, Komal Kedia, Monika Kandebo, Jacob N. Marcus, Sean M. Smith, Kevin P. Bateman, Daniel S. Spellman
J Lipid Res. 2022 Jun; 63(6): 100218. Published online 2022 Apr 27. doi: 10.1016/j.jlr.2022.100218
PMCID:
PMC9168725
AbstractArticlePDF–1.9M
11.
The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models
Nicole K. Polinski, Terina N. Martinez, Sylvie Ramboz, Michael Sasner, Mark Herberth, Robert Switzer, Syed O. Ahmad, Lee J. Pelligrino, Sean W. Clark, Jacob N. Marcus, Sean M. Smith, Kuldip D. Dave, Mark A. Frasier
Dis Model Mech. 2022 Jun 1; 15(6): dmm049192. Published online 2022 May 25. doi: 10.1242/dmm.049192
PMCID:
PMC9150115
AbstractArticle
12.
C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease
Albert Frank Magnusen, Reena Rani, Mary Ashley McKay, Shelby Loraine Hatton, Tsitsi Carol Nyamajenjere, Daniel Nii Aryee Magnusen, Jörg Köhl, Gregory Alex Grabowski, Manoj Kumar Pandey
Int J Mol Sci. 2021 Dec; 22(23): 12712. Published online 2021 Nov 24. doi: 10.3390/ijms222312712
PMCID:
PMC8657559
AbstractArticlePDF–2.5M
13.
Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model
Catherine Viel, Jennifer Clarke, Can Kayatekin, Amy M. Richards, Ming Sum R. Chiang, Hyejung Park, Bing Wang, Lamya S. Shihabuddin, S. Pablo Sardi
Sci Rep. 2021; 11: 20945. Published online 2021 Oct 22. doi: 10.1038/s41598-021-00404-5
PMCID:
PMC8536659
AbstractArticlePDF–1.6M
14.
Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease
Yanyan Peng, Benjamin Liou, Yi Lin, Venette Fannin, Wujuan Zhang, Ricardo A. Feldman, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun
Cells. 2021 Sep; 10(9): 2286. Published online 2021 Sep 2. doi: 10.3390/cells10092286
PMCID:
PMC8466461
AbstractArticlePDF–2.8M
15.
Wild-type GBA1 increases the α-synuclein tetramer–monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice
Kelly E. Glajch, Tim E. Moors, Yi Chen, Pascal A. Bechade, Alice Y. Nam, Molly M. Rajsombath, Thomas D. McCaffery, Ulf Dettmer, Andreas Weihofen, Warren D. Hirst, Dennis J. Selkoe, Silke Nuber
Proc Natl Acad Sci U S A. 2021 Aug 3; 118(31): e2103425118. Published online 2021 Jul 29. doi: 10.1073/pnas.2103425118
PMCID:
PMC8346893
AbstractArticlePDF–2.5M
16.
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease
Jenny Do, Gani Perez, Bahafta Berhe, Nahid Tayebi, Ellen Sidransky
Int J Mol Sci. 2021 Jul; 22(13): 6826. Published online 2021 Jun 25. doi: 10.3390/ijms22136826
PMCID:
PMC8267726
AbstractArticlePDF–1.5M
17.
Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model
Nicole K. Polinski, Terina N. Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O. Ahmad, Mali Cosden, Monika Kandebo, Robert E. Drolet, Peter D. Buckett, Weisong Shan, Yi Chen, Lee J. Pellegrino, Gregory D. Ellsworth, Leo B. Dungan, Warren D. Hirst, Sean W. Clark, Kuldip D. Dave
PLoS One. 2021; 16(6): e0252325. Published online 2021 Jun 9. doi: 10.1371/journal.pone.0252325
PMCID:
PMC8189458
AbstractArticlePDF–2.5M
18.
Lysosome and Inflammatory Defects in GBA1-Mutant Astrocytes Are Normalized by LRRK2 Inhibition
Anwesha Sanyal, Mark P. DeAndrade, Hailey S. Novis, Steven Lin, Jianjun Chang, Nathalie Lengacher, Julianna J. Tomlinson, Malú G. Tansey, Matthew J. LaVoie
Mov Disord. Author manuscript; available in PMC 2021 Jun 1.
Published in final edited form as: Mov Disord. 2020 May; 35(5): 760–773. Published online 2020 Feb 8. doi: 10.1002/mds.27994
PMCID:
PMC8167931
AbstractArticlePDF–1.8M
19.
Glucocerebrosidase Gene Therapy Induces Alpha-Synuclein Clearance and Neuroprotection of Midbrain Dopaminergic Neurons in Mice and Macaques
Diego Sucunza, Alberto J. Rico, Elvira Roda, María Collantes, Gloria González-Aseguinolaza, Ana I. Rodríguez-Pérez, Iván Peñuelas, Alfonso Vázquez, José L. Labandeira-García, Vania Broccoli, José L. Lanciego
Int J Mol Sci. 2021 May; 22(9): 4825. Published online 2021 May 1. doi: 10.3390/ijms22094825
PMCID:
PMC8125775
AbstractArticlePDF–9.8M
20.
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity
Martin Weber, Sang-Won Min, Tom Truong, Jeffrey Hung, Stephanie Dale, Mike Reichelt, Savita Ubhayakar, Carol Cain-Hom, Miriam Baca, Zhiyu Jiang, Qingling Li, Robert Brendza, Han Lin, Chung Kung, William F. Forrest, Cristine Quiason-Huynh, Wendy Sandoval, Buyun Chen, Yuzhong Deng, Amy Easton, Oded Foreman, Abdoulaye Sene, Baris Bingol
Sci Rep. 2021; 11: 6079. Published online 2021 Mar 16. doi: 10.1038/s41598-021-85528-4
PMCID:
PMC7971029
AbstractArticlePDF–2.7M

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