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Items: 1 to 20 of 52

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.
Cryo-EM structure of the fully assembled Elongator complex
Marcin Jaciuk, David Scherf, Karol Kaszuba, Monika Gaik, Alexander Rau, Anna Kościelniak, Rościsław Krutyhołowa, Michał Rawski, Paulina Indyka, Andrea Graziadei, Andrzej Chramiec-Głąbik, Anna Biela, Dominika Dobosz, Ting-Yu Lin, Nour-el-Hana Abbassi, Alexander Hammermeister, Juri Rappsilber, Jan Kosinski, Raffael Schaffrath, Sebastian Glatt
Nucleic Acids Res. 2023 Mar 21; 51(5): 2011–2032. Published online 2023 Jan 9. doi: 10.1093/nar/gkac1232
PMCID:
PMC10018365
AbstractArticlePDF–12M
3.
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Alexandra M. Cheney, Stephanann M. Costello, Nicholas V. Pinkham, Annie Waldum, Susan C. Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J. Kominsky, Heather M. Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T. Peach, Brian Bothner, Frances Lefcort, Valérie Copié, Seth T. Walk
Nat Commun. 2023; 14: 218. Published online 2023 Jan 13. doi: 10.1038/s41467-023-35787-8
PMCID:
PMC9839693
AbstractArticlePDF–1.4M
4.
Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models
Hsueh-Fu Wu, Wenxin Yu, Kenyi Saito-Diaz, Chia-Wei Huang, Joseph Carey, Frances Lefcort, Gerald W. Hart, Hong-Xiang Liu, Nadja Zeltner
Nat Commun. 2022; 13: 7032. Published online 2022 Nov 17. doi: 10.1038/s41467-022-34811-7
PMCID:
PMC9671909
AbstractArticlePDF–4.1M
5.
Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia
Carrie E Leonard, Jolie Quiros, Frances Lefcort, Lisa A Taneyhill
eLife. 2022; 11: e71455. Published online 2022 Jun 17. doi: 10.7554/eLife.71455
PMCID:
PMC9273214
AbstractArticlePDF–7.5M
6.
Elp1 is required for development of visceral sensory peripheral and central circuitry
Zariah Tolman, Marta Chaverra, Lynn George, Frances Lefcort
Dis Model Mech. 2022 May 1; 15(5): dmm049274. Published online 2022 Jun 1. doi: 10.1242/dmm.049274
PMCID:
PMC9187870
AbstractArticle
7.
Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation
Wei-Ting Chen, Huan-Yi Tseng, Chung-Lin Jiang, Chih-Ying Lee, Peter Chi, Liuh-Yow Chen, Kai-Yin Lo, I-Ching Wang, Fu-Jung Lin
J Biomed Sci. 2021; 28: 81. Published online 2021 Nov 24. doi: 10.1186/s12929-021-00773-z
PMCID:
PMC8613991
AbstractArticlePDF–3.4M
8.
Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia
Ghazal Vahidi, Hannah Flook, Vanessa Sherk, Marc Mergy, Frances Lefcort, Chelsea M. Heveran
Osteoporos Int. Author manuscript; available in PMC 2022 Nov 1.
Published in final edited form as: Osteoporos Int. 2021 Nov; 32(11): 2335–2346. Published online 2021 May 25. doi: 10.1007/s00198-021-06006-1
PMCID:
PMC8563419
AbstractArticlePDF–880K
9.
ATP-citrate lyase promotes axonal transport across species
Aviel Even, Giovanni Morelli, Silvia Turchetto, Michal Shilian, Romain Le Bail, Sophie Laguesse, Nathalie Krusy, Ariel Brisker, Alexander Brandis, Shani Inbar, Alain Chariot, Frédéric Saudou, Paula Dietrich, Ioannis Dragatsis, Bert Brone, Loïc Broix, Jean-Michel Rigo, Miguel Weil, Laurent Nguyen
Nat Commun. 2021; 12: 5878. Published online 2021 Oct 7. doi: 10.1038/s41467-021-25786-y
Correction in:
Nat Commun. 2021; 12: 6678.
PMCID:
PMC8497606
AbstractArticlePDF–5.3M
10.
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway
BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G. Becker, Lynn George
Biol Open. 2021 Sep 15; 10(9): bio058979. Published online 2021 Sep 30. doi: 10.1242/bio.058979
PMCID:
PMC8496692
AbstractArticlePDF–3.0M
11.
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik, Soroor Hediyeh-Zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina D. Fenger, Camilla G. Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas K. Hansen, Martin F. Boxill, Boris Keren, Isabelle Marey, Margarita S. Saenz, Kathleen Brown, Suzanne A. Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H. J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, Brandon J. Wainwright
Nat Commun. 2021; 12: 2678. Published online 2021 May 11. doi: 10.1038/s41467-021-22888-5
PMCID:
PMC8113450
AbstractArticlePDF–12M
12.
Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant
Meagan A. Quinlan, Matthew J. Robson, Ran Ye, Kristie L. Rose, Kevin L. Schey, Randy D. Blakely
Front Mol Neurosci. 2020; 13: 89. Published online 2020 Jun 8. doi: 10.3389/fnmol.2020.00089
PMCID:
PMC7295033
AbstractArticlePDF–2.7M
13.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
14.
Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility
Kuo-Tai Yang, Azusa Inoue, Yi-Jing Lee, Chung-Lin Jiang, Fu-Jung Lin
Sci Rep. 2019; 9: 18875. Published online 2019 Dec 11. doi: 10.1038/s41598-019-55090-1
PMCID:
PMC6906334
AbstractArticlePDF–1.4M
15.
Proteostasis is essential during cochlear development for neuron survival and hair cell polarity
Stephen Freeman, Susana Mateo Sánchez, Ronald Pouyo, Pierre‐Bernard Van Lerberghe, Kevin Hanon, Nicolas Thelen, Marc Thiry, Giovanni Morelli, Laura Van Hees, Sophie Laguesse, Alain Chariot, Laurent Nguyen, Laurence Delacroix, Brigitte Malgrange
EMBO Rep. 2019 Sep; 20(9): e47097. Published online 2019 Jul 19. doi: 10.15252/embr.201847097
PMCID:
PMC6726910
AbstractArticlePDF–16M
16.
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
17.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia
Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory G. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis, Susan A. Slaugenhaupt
Am J Hum Genet. 2019 Apr 4; 104(4): 638–650. Published online 2019 Mar 21. doi: 10.1016/j.ajhg.2019.02.009
PMCID:
PMC6451698
AbstractArticlePDF–1.8M
18.
ATG5 is required for B cell polarization and presentation of particulate antigens
Florent Arbogast, Johan Arnold, Philippe Hammann, Lauriane Kuhn, Johana Chicher, Diane Murera, Justine Weishaar, Sylviane Muller, Jean-Daniel Fauny, Frédéric Gros
Autophagy. 2019; 15(2): 280–294. Published online 2018 Sep 22. doi: 10.1080/15548627.2018.1516327
PMCID:
PMC6333460
AbstractArticlePDF–2.7M
19.
Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors
Hyeonwoo Kim, Christiane D. Wrann, Mark Jedrychowski, Sara Vidoni, Yukiko Kitase, Kenichi Nagano, Chenhe Zhou, Joshua Chou, Virginia-Jeni A. Parkman, Scott J. Novick, Timothy S. Strutzenberg, Bruce D. Pascal, Phuong T. Le, Daniel J. Brooks, Alexander M. Roche, Kaitlyn K. Gerber, Laura Mattheis, Wenjing Chen, Hua Tu, Mary L. Bouxsein, Patrick R. Griffin, Roland Baron, Clifford J. Rosen, Lynda F. Bonewald, Bruce M. Spiegelman
Cell. Author manuscript; available in PMC 2019 Dec 13.
Published in final edited form as: Cell. 2018 Dec 13; 175(7): 1756–1768.e17. doi: 10.1016/j.cell.2018.10.025
Correction in:
Cell. 2019 Jul 11; 178(2): 507–508.
PMCID:
PMC6298040
AbstractArticlePDF–1.2M
20.
Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia
Yumi Ueki, Veronika Shchepetkina, Frances Lefcort
Dis Model Mech. 2018 Jul 1; 11(7): dmm033746. Published online 2018 Jul 30. doi: 10.1242/dmm.033746
PMCID:
PMC6078410
AbstractArticle

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