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Items: 1 to 20 of 72

1.
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
2.
Untargeted Lipidomic Approach for Studying Different Nervous System Tissues of the Murine Model of Krabbe Disease
Husam B. R. Alabed, Ambra Del Grosso, Valeria Bellani, Lorena Urbanelli, Sara Carpi, Miriam De Sarlo, Lorenzo Bertocci, Laura Colagiorgio, Sandra Buratta, Luca Scaccini, Dorotea Frongia Mancini, Ilaria Tonazzini, Marco Cecchini, Carla Emiliani, Roberto Maria Pellegrino
Biomolecules. 2023 Oct; 13(10): 1562. Published online 2023 Oct 23. doi: 10.3390/biom13101562
PMCID:
PMC10605133
AbstractArticlePDF–6.3M
3.
Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy
Dar-Shong Lin, Yu-Wen Huang, Tsung-Han Lee, Lung Chang, Zon-Darr Huang, Tsu-Yen Wu, Tuan-Jen Wang, Che-Sheng Ho
Cells. 2023 Apr; 12(7): 993. Published online 2023 Mar 24. doi: 10.3390/cells12070993
PMCID:
PMC10093124
AbstractArticlePDF–4.3M
4.
Neurodegenerative Disorder Risk in Krabbe Disease Carriers
Lorenza Vantaggiato, Enxhi Shaba, Alfonso Carleo, Daiana Bezzini, Giovanna Pannuzzo, Alice Luddi, Paola Piomboni, Luca Bini, Laura Bianchi
Int J Mol Sci. 2022 Nov; 23(21): 13537. Published online 2022 Nov 4. doi: 10.3390/ijms232113537
PMCID:
PMC9654610
AbstractArticlePDF–2.0M
5.
β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice
Daniela Coltrini, Adwaid Manu Krishna Chandran, Mirella Belleri, Pietro L. Poliani, Manuela Cominelli, Francesca Pagani, Miriam Capra, Stefano Calza, Simona Prioni, Laura Mauri, Alessandro Prinetti, Julia K. Kofler, Maria L. Escolar, Marco Presta
Int J Mol Sci. 2022 Aug; 23(16): 9436. Published online 2022 Aug 21. doi: 10.3390/ijms23169436
PMCID:
PMC9409448
AbstractArticlePDF–6.3M
6.
Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration
Conlan Kreher, Jacob Favret, Nadav I. Weinstock, Malabika Maulik, Xinying Hong, Michael H. Gelb, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
PLoS Biol. 2022 Jul; 20(7): e3001661. Published online 2022 Jul 5. doi: 10.1371/journal.pbio.3001661
PMCID:
PMC9255775
AbstractArticlePDF–3.1M
7.
CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease
Rima Rebiai, Emily Rue, Steve Zaldua, Duc Nguyen, Giuseppe Scesa, Martin Jastrzebski, Robert Foster, Bin Wang, Xuntian Jiang, Leon Tai, Scott T. Brady, Richard van Breemen, Maria I. Givogri, Mark S. Sands, Ernesto R. Bongarzone
Front Mol Neurosci. 2022; 15: 896314. Published online 2022 May 10. doi: 10.3389/fnmol.2022.896314
PMCID:
PMC9127972
AbstractArticlePDF–11M
8.
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease
María B Cachón-González, Susan Wang, Timothy M Cox
Hum Mol Genet. 2021 Nov 15; 30(22): 2082–2099. Published online 2021 Jun 25. doi: 10.1093/hmg/ddab159
PMCID:
PMC8561423
AbstractArticlePDF–1.7M
9.
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor
Michael C. Babcock, Christina R. Mikulka, Bing Wang, Sanjay Chandriani, Sundeep Chandra, Yue Xu, Katherine Webster, Ying Feng, Hemanth R. Nelvagal, Alex Giaramita, Bryan K. Yip, Melanie Lo, Xuntian Jiang, Qi Chao, Josh C. Woloszynek, Yuqiao Shen, Shripad Bhagwat, Mark S. Sands, Brett E. Crawford
Sci Rep. 2021; 11: 14486. Published online 2021 Jul 14. doi: 10.1038/s41598-021-93601-1
PMCID:
PMC8280112
AbstractArticlePDF–10M
10.
Saturation mutagenesis defines novel mouse models of severe spine deformity
Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise
Dis Model Mech. 2021 Jun 1; 14(6): dmm048901. Published online 2021 Jun 18. doi: 10.1242/dmm.048901
PMCID:
PMC8246263
AbstractArticle
11.
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma
Yassene Mohammed, Sarah A. Michaud, Helena Pětrošová, Juncong Yang, Milan Ganguly, David Schibli, Ann M. Flenniken, Lauryl M. J. Nutter, Hibret A. Adissu, K. C. Kent Lloyd, Colin McKerlie, Christoph H. Borchers
NPJ Syst Biol Appl. 2021; 7: 25. Published online 2021 May 28. doi: 10.1038/s41540-021-00184-8
PMCID:
PMC8163790
AbstractArticlePDF–6.9M
12.
Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?
Mohammad A Rafi, Paola Luzi, David A Wenger
Bioimpacts. 2021; 11(2): 135–146. Published online 2021 Feb 26. doi: 10.34172/bi.2021.21
PMCID:
PMC8022232
AbstractArticlePDF–1.7M
13.
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction
Nadav I. Weinstock, Daesung Shin, Narayan Dhimal, Xinying Hong, Eric E. Irons, Nicholas J. Silvestri, Chelsey B. Reed, Duc Nguyen, Oliver Sampson, Yung-Chih Cheng, Joseph T.Y. Lau, Ernesto R. Bongarzone, Julia Kofler, Maria L. Escolar, Michael H. Gelb, Lawrence Wrabetz, M. Laura Feltri
Neuron. Author manuscript; available in PMC 2021 Mar 2.
Published in final edited form as: Neuron. 2020 Jul 8; 107(1): 65–81.e9. Published online 2020 May 5. doi: 10.1016/j.neuron.2020.03.031
PMCID:
PMC7924901
AbstractArticlePDF–5.3M
14.
Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse
Ilaria Tonazzini, Chiara Cerri, Ambra Del Grosso, Sara Antonini, Manuela Allegra, Matteo Caleo, Marco Cecchini
Biomolecules. 2021 Jan; 11(1): 7. Published online 2020 Dec 23. doi: 10.3390/biom11010007
PMCID:
PMC7824544
AbstractArticlePDF–2.2M
15.
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease
Nadav I. Weinstock, Conlan Kreher, Jacob Favret, Duc Nguyen, Ernesto R. Bongarzone, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
Nat Commun. 2020; 11: 5356. Published online 2020 Oct 23. doi: 10.1038/s41467-020-19179-w
PMCID:
PMC7584660
AbstractArticlePDF–8.9M
16.
Cell-autonomous expression of the acid hydrolase galactocerebrosidase
Christina R. Mikulka, Joshua T. Dearborn, Bruno A. Benitez, Amy Strickland, Lin Liu, Jeffrey Milbrandt, Mark S. Sands
Proc Natl Acad Sci U S A. 2020 Apr 21; 117(16): 9032–9041. Published online 2020 Apr 6. doi: 10.1073/pnas.1917675117
PMCID:
PMC7183170
AbstractArticlePDF–1.9M
17.
Fingolimod Rescues Demyelination in a Mouse Model of Krabbe's Disease
Sibylle Béchet, Sinead A. O'Sullivan, Justin Yssel, Steven G. Fagan, Kumlesh K. Dev
J Neurosci. 2020 Apr 8; 40(15): 3104–3118. doi: 10.1523/JNEUROSCI.2346-19.2020
PMCID:
PMC7141882
AbstractArticlePDF–7.6M
18.
Perineuronal Oligodendrocytes Protect against Neuronal Apoptosis through the Production of Lipocalin-Type Prostaglandin D Synthase in a Genetic Demyelinating Model
Masako Taniike, Ikuko Mohri, Naomi Eguchi, Carsten T. Beuckmann, Kinuko Suzuki, Yoshihiro Urade
J Neurosci. 2002 Jun 15; 22(12): 4885–4896. doi: 10.1523/JNEUROSCI.22-12-04885.2002
PMCID:
PMC6757748
AbstractArticlePDF–1.9M
19.
Prostaglandin D2-Mediated Microglia/Astrocyte Interaction Enhances Astrogliosis and Demyelination in twitcher
Ikuko Mohri, Masako Taniike, Hidetoshi Taniguchi, Takahisa Kanekiyo, Kosuke Aritake, Takashi Inui, Noriko Fukumoto, Naomi Eguchi, Atsuko Kushi, Hitoshi Sasai, Yoshihide Kanaoka, Keiichi Ozono, Shuh Narumiya, Kinuko Suzuki, Yoshihiro Urade
J Neurosci. 2006 Apr 19; 26(16): 4383–4393. doi: 10.1523/JNEUROSCI.4531-05.2006
PMCID:
PMC6673986
AbstractArticlePDF–1.9M
20.
Autonomic Denervation of Lymphoid Organs Leads to Epigenetic Immune Atrophy in a Mouse Model of Krabbe Disease
Francesca Galbiati, Veronica Basso, Ludovico Cantuti, Maria Irene Givogri, Aurora Lopez-Rosas, Nicolas Perez, Chenthamarakshan Vasu, Hongmei Cao, Richard van Breemen, Anna Mondino, Ernesto R. Bongarzone
J Neurosci. 2007 Dec 12; 27(50): 13730–13738. doi: 10.1523/JNEUROSCI.3379-07.2007
PMCID:
PMC6673629
AbstractArticlePDF–727K

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