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Items: 1 to 20 of 35

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.
ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis
Agnieszka Buda, Sonja Forss-Petter, Rong Hua, Yorrick Jaspers, Mark Lassnig, Petra Waidhofer-Söllner, Stephan Kemp, Peter Kim, Isabelle Weinhofer, Johannes Berger
Biomolecules. 2023 Sep; 13(9): 1333. Published online 2023 Aug 31. doi: 10.3390/biom13091333
PMCID:
PMC10526550
AbstractArticlePDF–26M
3.
Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy
Ksenija Martinović, Jan Bauer, Markus Kunze, Johannes Berger, Sonja Forss-Petter
Acta Neuropathol Commun. 2023; 11: 98. Published online 2023 Jun 18. doi: 10.1186/s40478-023-01595-w
PMCID:
PMC10276915
AbstractArticlePDF–2.9M
4.
Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy
Christina L. Nemeth, Özgül Gӧk, Sophia N. Tomlinson, Anjali Sharma, Ann B. Moser, Sujatha Kannan, Rangaramanujam M. Kannan, Ali Fatemi
Neurotherapeutics. 2023 Jan; 20(1): 272–283. Published online 2022 Oct 7. doi: 10.1007/s13311-022-01311-x
PMCID:
PMC9542479
AbstractArticlePDF–3.5M
5.
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia
Yi Gong, Fiza Laheji, Anna Berenson, April Qian, Sang-O Park, Rene Kok, Martin Selig, Ryan Hahn, Reza Sadjadi, Stephan Kemp, Florian Eichler
Cells. 2022 Jun; 11(11): 1842. Published online 2022 Jun 4. doi: 10.3390/cells11111842
PMCID:
PMC9180358
AbstractArticlePDF–4.6M
6.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
7.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
8.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
9.
Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy
Pablo Ranea‐Robles, Nathalie Launay, Montserrat Ruiz, Noel Ylagan Calingasan, Magali Dumont, Alba Naudí, Manuel Portero‐Otín, Reinald Pamplona, Isidre Ferrer, M Flint Beal, Stéphane Fourcade, Aurora Pujol
EMBO Mol Med. 2018 Aug; 10(8): e8604. Published online 2018 Jul 11. doi: 10.15252/emmm.201708604
PMCID:
PMC6079538
AbstractArticlePDF–3.9M
10.
A Thyroid Hormone–Based Strategy for Correcting the Biochemical Abnormality in X-Linked Adrenoleukodystrophy
Meredith D. Hartley, Lisa L. Kirkemo, Tapasree Banerji, Thomas S. Scanlan
Endocrinology. 2017 May 1; 158(5): 1328–1338. Published online 2017 Feb 14. doi: 10.1210/en.2016-1842
PMCID:
PMC5460829
AbstractArticle
11.
Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy
Sandra Kleinecke, Sarah Richert, Livia de Hoz, Britta Brügger, Theresa Kungl, Ebrahim Asadollahi, Susanne Quintes, Judith Blanz, Rhona McGonigal, Kobra Naseri, Michael W Sereda, Timo Sachsenheimer, Christian Lüchtenborg, Wiebke Möbius, Hugh Willison, Myriam Baes, Klaus-Armin Nave, Celia Michèle Kassmann
eLife. 2017; 6: e23332. Published online 2017 May 4. doi: 10.7554/eLife.23332
PMCID:
PMC5417850
AbstractArticlePDF–3.3M
12.
Peroxisomal ATP-binding cassette transporters form mainly tetramers
Flore Geillon, Catherine Gondcaille, Quentin Raas, Alexandre M. M. Dias, Delphine Pecqueur, Caroline Truntzer, Géraldine Lucchi, Patrick Ducoroy, Pierre Falson, Stéphane Savary, Doriane Trompier
J Biol Chem. 2017 Apr 28; 292(17): 6965–6977. Published online 2017 Mar 3. doi: 10.1074/jbc.M116.772806
PMCID:
PMC5409465
AbstractArticlePDF–1.3M
13.
25-hydroxycholesterol contributes to cerebral inflammation of X-linked adrenoleukodystrophy through activation of the NLRP3 inflammasome
Jiho Jang, Sangjun Park, Hye Jin Hur, Hyun-Ju Cho, Inhwa Hwang, Yun Pyo Kang, Isak Im, Hyunji Lee, Eunju Lee, Wonsuk Yang, Hoon-Chul Kang, Sung Won Kwon, Je-Wook Yu, Dong-Wook Kim
Nat Commun. 2016; 7: 13129. Published online 2016 Oct 25. doi: 10.1038/ncomms13129
PMCID:
PMC5093305
AbstractArticlePDF–2.7M
14.
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
Malu-Clair van de Beek, Inge M. E. Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas, Nicolas Schauer, Martin Schackmann, Joo-Yeon Engelen-Lee, Frédéric M. Vaz, Wim Kulik, Ronald J. A. Wanders, Marc Engelen, Stephan Kemp
PLoS One. 2016; 11(4): e0154597. Published online 2016 Apr 28. doi: 10.1371/journal.pone.0154597
PMCID:
PMC4849772
AbstractArticlePDF–3.1M
15.
Activation of sirtuin 1 as therapy for the peroxisomal disease adrenoleukodystrophy
L Morató, M Ruiz, J Boada, N Y Calingasan, J Galino, C Guilera, M Jové, A Naudí, I Ferrer, R Pamplona, M Serrano, M Portero-Otín, M F Beal, S Fourcade, A Pujol
Cell Death Differ. 2015 Nov; 22(11): 1742–1753. Published online 2015 Mar 27. doi: 10.1038/cdd.2015.20
PMCID:
PMC4648322
AbstractArticlePDF–3.5M
16.
Loss of AMP-Activated Protein Kinase Induces Mitochondrial Dysfunction and Proinflammatory Response in Unstimulated Abcd1-Knockout Mice Mixed Glial Cells
Jaspreet Singh, Hamid Suhail, Shailendra Giri
Mediators Inflamm. 2015; 2015: 176983. Published online 2015 Mar 15. doi: 10.1155/2015/176983
PMCID:
PMC4377497
AbstractArticlePDF–1.4M
17.
Abcd2 Is a Strong Modifier of the Metabolic Impairments in Peritoneal Macrophages of Abcd1-Deficient Mice
Zahid Muneer, Christoph Wiesinger, Till Voigtländer, Hauke B. Werner, Johannes Berger, Sonja Forss-Petter
PLoS One. 2014; 9(9): e108655. Published online 2014 Sep 25. doi: 10.1371/journal.pone.0108655
PMCID:
PMC4177892
AbstractArticlePDF–781K
18.
Structure-Function Analysis of Peroxisomal ATP-binding Cassette Transporters Using Chimeric Dimers
Flore Geillon, Catherine Gondcaille, Soëli Charbonnier, Carlo W. Van Roermund, Tatiana E. Lopez, Alexandre M. M. Dias, Jean-Paul Pais de Barros, Christine Arnould, Ronald J. Wanders, Doriane Trompier, Stéphane Savary
J Biol Chem. 2014 Aug 29; 289(35): 24511–24520. Published online 2014 Jul 20. doi: 10.1074/jbc.M114.575506
PMCID:
PMC4148876
AbstractArticlePDF–1.4M
19.
Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen
Hibret A. Adissu, Jeanne Estabel, David Sunter, Elizabeth Tuck, Yvette Hooks, Damian M. Carragher, Kay Clarke, Natasha A. Karp, Sanger Mouse Genetics Project, Susan Newbigging, Nora Jones, Lily Morikawa, Jacqueline K. White, Colin McKerlie
Dis Model Mech. 2014 May; 7(5): 515–524. Published online 2014 Mar 20. doi: 10.1242/dmm.015263
PMCID:
PMC4007403
AbstractArticle
20.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M

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