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Select item 109176601.

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 103078522.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 101920473.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG)

B Balakrishnan, R Altassan, R Budhraja, W Liou, A Lupo, S Bryant, A Mankouski, S Radenkovic, G Preston, A Pandey, S Boudina, T Kozicz, E Morava, K Lai

Transl Res. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Transl Res. 2023 Jul; 257: 1–14. Published online 2023 Jan 26. doi: 10.1016/j.trsl.2023.01.004

PMCID:: PMC10192047

Abstract Article PDF–5.4M

Select item 101794584.

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber

Int J Mol Sci. 2023 May; 24(9): 8247. Published online 2023 May 4. doi: 10.3390/ijms24098247

PMCID:: PMC10179458

Abstract Article PDF–7.4M

Select item 96038605.

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Laura Sánchez-Bellver, Andrea Férriz-Gordillo, Marc Carrillo-Pz, Laura Rabanal, Francesc R. Garcia-Gonzalo, Gemma Marfany

Int J Mol Sci. 2022 Oct; 23(20): 12527. Published online 2022 Oct 19. doi: 10.3390/ijms232012527

PMCID:: PMC9603860

Abstract Article PDF–3.4M

Select item 79387706.

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

Abstract Article PDF–2.0M

Select item 67391637.

A Novel Phosphoglucomutase-deficient Mouse Model Reveals Aberrant Glycosylation and Early Embryonic Lethality

B Balakrishnan, J Verheijen, A Lupo, K Raymond, CT Turgeon, Y Yang, KL Carter, KJ Whitehead, T Kozicz, E Morava, K Lai

J Inherit Metab Dis. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: J Inherit Metab Dis. 2019 Sep; 42(5): 998–1007. Published online 2019 Jun 21. doi: 10.1002/jimd.12110

PMCID:: PMC6739163

Abstract Article PDF–1.7M

Select item 65225358.

Yin Yang 1 sustains biosynthetic demands during brain development in a stage-specific manner

Luis Zurkirchen, Sandra Varum, Sonja Giger, Annika Klug, Jessica Häusel, Raphaël Bossart, Martina Zemke, Claudio Cantù, Zeynep Kalender Atak, Nicola Zamboni, Konrad Basler, Lukas Sommer

Nat Commun. 2019; 10: 2192. Published online 2019 May 16. doi: 10.1038/s41467-019-09823-5

PMCID:: PMC6522535

Abstract Article PDF–7.1M

Select item 57990239.

Chemical cross-linking mass spectrometry analysis of protein conformations and supercomplexes in heart tissue

Juan D. Chavez, Chi Fung Lee, Arianne Caudal, Andrew Keller, Rong Tian, James E. Bruce

Cell Syst. Author manuscript; available in PMC 2019 Jan 24.

Published in final edited form as: Cell Syst. 2018 Jan 24; 6(1): 136–141.e5. Published online 2017 Nov 29. doi: 10.1016/j.cels.2017.10.017

PMCID:: PMC5799023

Abstract Article PDF–730K

Select item 533761810.

Spatiotemporal Analysis of a Glycolytic Activity Gradient Linked to Mouse Embryo Mesoderm Development

Vinay Bulusu, Nicole Prior, Marteinn T. Snaebjornsson, Andreas Kuehne, Katharina F. Sonnen, Jana Kress, Frank Stein, Carsten Schultz, Uwe Sauer, Alexander Aulehla

Dev Cell. 2017 Feb 27; 40(4): 331–341.e4. doi: 10.1016/j.devcel.2017.01.015

PMCID:: PMC5337618

Abstract Article

Select item 494642711.

Requirement for the Mitochondrial Pyruvate Carrier in Mammalian Development Revealed by a Hypomorphic Allelic Series

Caitlyn E. Bowman, Liang Zhao, Thomas Hartung, Michael J. Wolfgang

Mol Cell Biol. 2016 Aug 1; 36(15): 2089–2104. Prepublished online 2016 May 23. Published online 2016 Jul 14. doi: 10.1128/MCB.00166-16

PMCID:: PMC4946427

Abstract Article PDF–3.4M

Select item 357241012.

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

Abstract Article PDF–1.1M

Select item 353665613.

Insulin and IGF1 Receptors Are Essential for XX and XY Gonadal Differentiation and Adrenal Development in Mice

Jean-Luc Pitetti, Pierre Calvel, Yannick Romero, Béatrice Conne, Vy Truong, Marilena D. Papaioannou, Olivier Schaad, Mylène Docquier, Pedro Luis Herrera, Dagmar Wilhelm, Serge Nef

PLoS Genet. 2013 Jan; 9(1): e1003160. Published online 2013 Jan 3. doi: 10.1371/journal.pgen.1003160