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Select item 111090941.

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

Abstract Article PDF–2.4M

Select item 109217192.

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

Abstract Article PDF–4.1M

Select item 109176603.

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

Abstract Article PDF–4.8M

Select item 108558694.

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

Abstract Article PDF–5.2M

Select item 104184975.

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

Abstract Article PDF–5.5M

Select item 100976586.

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

Abstract Article PDF–3.6M

Select item 99104397.

PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases

Xiangli Zhao, Yi Lin, Benjamin Liou, Wenyu Fu, Jinlong Jian, Venette Fannin, Wujuan Zhang, Kenneth D. R. Setchell, Gregory A. Grabowski, Ying Sun, Chuan-ju Liu

Proc Natl Acad Sci U S A. 2023 Jan 3; 120(1): e2210442120. Published online 2022 Dec 27. doi: 10.1073/pnas.2210442120

PMCID:: PMC9910439

Abstract Article PDF–6.4M

Select item 98646328.

Neuronopathic GBA1L444P Mutation Accelerates Glucosylsphingosine Levels and Formation of Hippocampal Alpha-Synuclein Inclusions

Casey L. Mahoney-Crane, Megha Viswanathan, Dreson Russell, Rachel A.C. Curtiss, Jennifer Freire, Sai Sumedha Bobba, Sean D. Coyle, Monika Kandebo, Lihang Yao, Bang-Lin Wan, Nathan G. Hatcher, Sean M. Smith, Jacob N. Marcus, Laura A. Volpicelli-Daley

J Neurosci. 2023 Jan 18; 43(3): 501–521. doi: 10.1523/JNEUROSCI.0680-22.2022

PMCID:: PMC9864632

Abstract Article PDF–4.8M

Select item 96183069.

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

Abstract Article PDF–4.1M

Select item 938103910.

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

Abstract Article PDF–4.9M

Select item 919627111.

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

Abstract Article PDF–1.9M

Select item 916872512.

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

Abstract Article PDF–1.9M

Select item 915011513.

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

Abstract Article

Select item 865755914.

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

Abstract Article PDF–2.5M

Select item 853665915.

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

Abstract Article PDF–1.6M

Select item 846646116.

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

Abstract Article PDF–2.8M

Select item 834689317.

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

Abstract Article PDF–2.5M

Select item 826772618.

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

Abstract Article PDF–1.5M

Select item 818945819.

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

Abstract Article PDF–2.5M

Select item 816793120.

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

Abstract Article PDF–1.8M

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