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Select item 113603641.

Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3^tm1Ling/+ and Atp1a3^+/D801Y

Yi Bessie Liu, Elena Arystarkhova, Amanda N. Sacino, Margit V. Szabari, Cathleen M. Lutz, Markus Terrey, Natalia S. Morsci, Tatjana C. Jakobs, Karin Lykke-Hartmann, Allison Brashear, Elenora Napoli, Kathleen J. Sweadner

eNeuro. 2024 Aug; 11(8): ENEURO.0101-24.2024. Prepublished online 2024 Aug 7. Published online 2024 Aug 20. doi: 10.1523/ENEURO.0101-24.2024

PMCID:: PMC11360364

Abstract Article PDF–1.9M

Select item 112475022.

ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress

Fumihiko Fujii, Hikaru Kanemasa, Sayaka Okuzono, Daiki Setoyama, Ryoji Taira, Kousuke Yonemoto, Yoshitomo Motomura, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Shouichi Ohga, Yasunari Sakai

Dis Model Mech. 2024 Jun 1; 17(6): dmm050574. Published online 2024 Jul 2. doi: 10.1242/dmm.050574

PMCID:: PMC11247502

Abstract Article

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 107693504.

Identification of new ciliary signaling pathways in the brain and insights into neurological disorders

Abdelhalim Loukil, Emma Ebright, Akiyoshi Uezu, Yudong Gao, Scott H Soderling, Sarah C. Goetz

Version 1. bioRxiv. Preprint. 2023 Dec 21. doi: 10.1101/2023.12.20.572700

PMCID:: PMC10769350

Abstract Article PDF–11M

Select item 103078525.

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 102682406.

ZBTB20 is essential for cochlear maturation and hearing in mice

Zhifang Xie, Xian-Hua Ma, Qiu-Fang Bai, Jie Tang, Jian-He Sun, Fei Jiang, Wei Guo, Chen-Ma Wang, Rui Yang, Yin-Chuan Wen, Fang-Yuan Wang, Yu-Xia Chen, Hai Zhang, David Z. He, Matthew W. Kelley, Shiming Yang, Weiping J. Zhang

Proc Natl Acad Sci U S A. 2023 Jun 13; 120(24): e2220867120. Published online 2023 Jun 6. doi: 10.1073/pnas.2220867120

PMCID:: PMC10268240

Abstract Article PDF–7.7M

Select item 99382167.

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes

Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x

PMCID:: PMC9938216

Abstract Article PDF–5.3M

Select item 99313888.

Molecular characterization of the intact mouse muscle spindle using a multi-omics approach

Bavat Bornstein, Lia Heinemann-Yerushalmi, Sharon Krief, Ruth Adler, Bareket Dassa, Dena Leshkowitz, Minchul Kim, Guy Bewick, Robert W Banks, Elazar Zelzer

eLife. 2023; 12: e81843. Published online 2023 Feb 6. doi: 10.7554/eLife.81843

PMCID:: PMC9931388

Abstract Article PDF–6.3M

Select item 96038609.

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 956419210.

PGC-1α4 Interacts with REST to Upregulate Neuronal Genes and Augment Energy Consumption in Developing Cardiomyocytes

Tomi Tuomainen, Nikolay Naumenko, Maija Mutikainen, Anastasia Shakirzyanova, Sarah Sczelecki, Jennifer L. Estall, Jorge L. Ruas, Pasi Tavi

Cells. 2022 Oct; 11(19): 2944. Published online 2022 Sep 20. doi: 10.3390/cells11192944

PMCID:: PMC9564192

Abstract Article PDF–3.2M

Select item 861097411.

Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation

Rin Khang, Areum Jo, Hojin Kang, Hanna Kim, Eunsang Kwag, Ji-Yeong Lee, Okjae Koo, Jinsu Park, Hark Kyun Kim, Dong-Gyu Jo, Inwoo Hwang, Jee-Yin Ahn, Yunjong Lee, Jeong-Yun Choi, Yun-Song Lee, Joo-Ho Shin

Sci Rep. 2021; 11: 22745. Published online 2021 Nov 23. doi: 10.1038/s41598-021-02218-x

PMCID:: PMC8610974

Abstract Article PDF–2.5M

Select item 831323912.

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

Abstract Article PDF–1.6M

Select item 818248313.

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3^Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood

Arsen S. Hunanyan, Boris Kantor, Ram S. Puranam, Courtney Elliott, Angela McCall, Justin Dhindsa, Promila Pagadala, Keri Wallace, Jordan Poe, Talha Gunduz, Aravind Asokan, Dwight D. Koeberl, Mai K. ElMallah, Mohamad A. Mikati

Hum Gene Ther. April 2021; 32(7-8): 405–419. Published online 2021 Apr 19. doi: 10.1089/hum.2020.191

PMCID:: PMC8182483

Abstract Article PDF–1.3M

Select item 793877014.

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 786441915.

Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na⁺,K⁺-ATPase-related neurologic disorders

Keiko Ikeda, Adriana A. Tienda, Fiona E. Harrison, Kiyoshi Kawakami

PLoS One. 2021; 16(2): e0246678. Published online 2021 Feb 5. doi: 10.1371/journal.pone.0246678

PMCID:: PMC7864419

Abstract Article PDF–2.7M

Select item 702539716.

Na⁺/K⁺-ATPase α isoform deficiency results in distinct spreading depolarization phenotypes

Clemens Reiffurth, Mesbah Alam, Mahdi Zahedi-Khorasani, Sebastian Major, Jens P Dreier

J Cereb Blood Flow Metab. 2020 Mar; 40(3): 622–638. Published online 2019 Feb 28. doi: 10.1177/0271678X19833757

PMCID:: PMC7025397

Abstract Article PDF–2.1M

Select item 679538317.

Disruption of Robo2-Baiap2 integrated signaling drives cystic disease

Qinggang Li, Shaoyuan Cui, Qian Ma, Ying Liu, Hongyu Yu, GuangRui Geng, Ewud Agborbesong, Chongyu Ren, Kai Wei, Yingjie Zhang, Jurong Yang, Xueyuan Bai, Guangyan Cai, Yuansheng Xie, Xiaogang Li, Xiangmei Chen

JCI Insight. 2019 Sep 19; 4(18): e127602. Published online 2019 Sep 19. doi: 10.1172/jci.insight.127602