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Items: 1 to 20 of 165

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.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice
Sofia Benucci, Alexis Ruiz, Martina Franchini, Lucia Ruggiero, Dario Zoppi, Rebecca Sitsapesan, Chris Lindsay, Pawel Pelczar, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato
J Gen Physiol. 2024 Apr 1; 156(4): e202313486. Published online 2024 Mar 4. doi: 10.1085/jgp.202313486
PMCID:
PMC10911087
AbstractArticlePDF–5.3M
3.
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating
Chris G. Thekkedam, Travis L. Dutka, Chris Van der Poel, Gaetan Burgio, Angela F. Dulhunty
Int J Mol Sci. 2024 Jan; 25(1): 434. Published online 2023 Dec 28. doi: 10.3390/ijms25010434
PMCID:
PMC10778724
AbstractArticlePDF–4.2M
4.
Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou
J Cachexia Sarcopenia Muscle. 2023 Dec; 14(6): 2882–2897. Published online 2023 Nov 15. doi: 10.1002/jcsm.13349
PMCID:
PMC10751419
AbstractArticlePDF–5.0M
5.
Senolytics prevent caveolar CaV3.2‐RyR axis malfunction in old vascular smooth muscle
Jie Lin, Weiming Guo, Qingtian Luo, Qingping Zhang, Teng Wan, Changyu Jiang, Yuanchun Ye, Haihuan Lin, Gang Fan
Aging Cell. 2023 Nov; 22(11): e14002. Published online 2023 Oct 14. doi: 10.1111/acel.14002
PMCID:
PMC10652315
AbstractArticlePDF–5.7M
6.
Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy
Zsuzsanna É. Magyar, Judit Hevesi, Linda Groom, Robert T. Dirksen, János Almássy
Sci Rep. 2023; 13: 14659. Published online 2023 Sep 5. doi: 10.1038/s41598-023-41801-2
PMCID:
PMC10480487
AbstractArticlePDF–5.2M
7.
Isoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons
Vanessa Osman, Iris Speigel, Kishan Patel, Hugh C. Hemmings, Jr
eNeuro. 2023 Aug; 10(8): ENEURO.0114-23.2023. Prepublished online 2023 Aug 17. Published online 2023 Aug 28. doi: 10.1523/ENEURO.0114-23.2023
PMCID:
PMC10467020
AbstractArticlePDF–2.6M
8.
ER stress increases expression of intracellular calcium channel RyR1 to modify Ca2+ homeostasis in pancreatic beta cells
Irina X. Zhang, Andrea Herrmann, Juan Leon, Sivakumar Jeyarajan, Anoop Arunagiri, Peter Arvan, Patrick Gilon, Leslie S. Satin
J Biol Chem. 2023 Aug; 299(8): 105065. Published online 2023 Jul 17. doi: 10.1016/j.jbc.2023.105065
PMCID:
PMC10448220
AbstractArticlePDF–1.1M
9.
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Jan Eckhardt, Alexis Ruiz, Stéphane Koenig, Maud Frieden, Hervé Meier, Alexander Schmidt, Susan Treves, Francesco Zorzato
eLife. 2023; 12: e83618. Published online 2023 Mar 2. doi: 10.7554/eLife.83618
PMCID:
PMC10038659
AbstractArticlePDF–4.0M
10.
Loss-of-rescue of Ryr1I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP
Serena Germani, Alessia Celeste Marchetti, Andrea Guidarelli, Orazio Cantoni, Vincenzo Sorrentino, Ester Zito
Sci Rep. 2022; 12: 20632. Published online 2022 Nov 30. doi: 10.1038/s41598-022-25198-y
PMCID:
PMC9712496
AbstractArticlePDF–2.0M
11.
Mapping Brain Gene Coexpression in Daytime Transcriptomes Unveils Diurnal Molecular Networks and Deciphers Perturbation Gene Signatures
Nan Wang, Peter Langfelder, Matthew Stricos, Lalini Ramanathan, Jeffrey B. Richman, Raymond Vaca, Mary Plascencia, Xiaofeng Gu, Shasha Zhang, T. Katherine Tamai, Liguo Zhang, Fuying Gao, Koliane Ouk, Xiang Lu, Leonya Ivanov, Tom Vogt, Qing Richard Lu, A. Jennifer Morton, Christopher Colwell, Jeffrey S. Aaronson, Jim Rosinski, Steve Horvath, X. William Yang
Neuron. Author manuscript; available in PMC 2023 Oct 19.
Published in final edited form as: Neuron. 2022 Oct 19; 110(20): 3318–3338.e9. doi: 10.1016/j.neuron.2022.09.028
PMCID:
PMC9665885
AbstractArticlePDF–4.5M
12.
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes
Yoshitaka Tsuboi, Kotaro Oyama, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Nagomi Kurebayashi, Toshiaki Tachibana, Yoshinobu Manome, Emi Kikuchi, Satoru Noguchi, Takayoshi Inoue, Yukiko U. Inoue, Ichizo Nishino, Shuichi Mori, Ryosuke Ishida, Hiroyuki Kagechika, Madoka Suzuki, Norio Fukuda, Toshiko Yamazawa
J Gen Physiol. 2022 Nov 7; 154(11): e202213136. Published online 2022 Oct 6. doi: 10.1085/jgp.202213136
PMCID:
PMC9546722
AbstractArticlePDF–6.0M
13.
Oxygen Consumption and Basal Metabolic Rate as Markers of Susceptibility to Malignant Hyperthermia and Heat Stroke
Matteo Serano, Laura Pietrangelo, Cecilia Paolini, Flavia A. Guarnier, Feliciano Protasi
Cells. 2022 Aug; 11(16): 2468. Published online 2022 Aug 9. doi: 10.3390/cells11162468
PMCID:
PMC9406760
AbstractArticlePDF–2.6M
14.
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors
Alexis Ruiz, Sofia Benucci, Urs Duthaler, Christoph Bachmann, Martina Franchini, Faiza Noreen, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato
eLife. 2022; 11: e73718. Published online 2022 Mar 3. doi: 10.7554/eLife.73718
PMCID:
PMC8956288
AbstractArticlePDF–9.6M
15.
Ca2+ leak through ryanodine receptor 1 regulates thermogenesis in resting skeletal muscle
Aldo Meizoso-Huesca, Luke Pearce, Christopher J. Barclay, Bradley S. Launikonis
Proc Natl Acad Sci U S A. 2022 Jan 25; 119(4): e2119203119. Published online 2022 Jan 19. doi: 10.1073/pnas.2119203119
PMCID:
PMC8794839
AbstractArticlePDF–1.5M
16.
Maternal exercise intergenerationally drives muscle-based thermogenesis via activation of apelin-AMPK signaling
Jun Seok Son, Song Ah Chae, Liang Zhao, Hongyang Wang, Jeanene M. de Avila, Mei-Jun Zhu, Zhihua Jiang, Min Du
EBioMedicine. 2022 Feb; 76: 103842. Published online 2022 Jan 23. doi: 10.1016/j.ebiom.2022.103842
PMCID:
PMC8790600
AbstractArticlePDF–4.3M
17.
Developmental Exposure to a Human-Relevant Polychlorinated Biphenyl Mixture Causes Behavioral Phenotypes That Vary by Sex and Genotype in Juvenile Mice Expressing Human Mutations That Modulate Neuronal Calcium
Sunjay Sethi, Kimberly P. Keil Stietz, Anthony E. Valenzuela, Carolyn R. Klocke, Jill L. Silverman, Birgit Puschner, Isaac N. Pessah, Pamela J. Lein
Front Neurosci. 2021; 15: 766826. Published online 2021 Dec 6. doi: 10.3389/fnins.2021.766826
PMCID:
PMC8685320
AbstractArticlePDF–3.9M
18.
Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse
Kimberly P. Keil Stietz, Sunjay Sethi, Carolyn R. Klocke, Tryssa E. de Ruyter, Machelle D. Wilson, Isaac N. Pessah, Pamela J. Lein
Front Neurosci. 2021; 15: 766802. Published online 2021 Dec 3. doi: 10.3389/fnins.2021.766802
PMCID:
PMC8678536
AbstractArticlePDF–19M
19.
Acute RyR1 Ca2+ leak enhances NADH-linked mitochondrial respiratory capacity
Nadège Zanou, Haikel Dridi, Steven Reiken, Tanes Imamura de Lima, Chris Donnelly, Umberto De Marchi, Manuele Ferrini, Jeremy Vidal, Leah Sittenfeld, Jerome N. Feige, Pablo M. Garcia-Roves, Isabel C. Lopez-Mejia, Andrew R. Marks, Johan Auwerx, Bengt Kayser, Nicolas Place
Nat Commun. 2021; 12: 7219. Published online 2021 Dec 10. doi: 10.1038/s41467-021-27422-1
PMCID:
PMC8664928
AbstractArticlePDF–3.6M
20.
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke
Toshiko Yamazawa, Takuya Kobayashi, Nagomi Kurebayashi, Masato Konishi, Satoru Noguchi, Takayoshi Inoue, Yukiko U. Inoue, Ichizo Nishino, Shuichi Mori, Hiroto Iinuma, Noriaki Manaka, Hiroyuki Kagechika, Arkady Uryash, Jose Adams, Jose R. Lopez, Xiaochen Liu, Christine Diggle, Paul D. Allen, Sho Kakizawa, Keigo Ikeda, Bangzhong Lin, Yui Ikemi, Kazuto Nunomura, Shinsaku Nakagawa, Takashi Sakurai, Takashi Murayama
Nat Commun. 2021; 12: 4293. Published online 2021 Jul 13. doi: 10.1038/s41467-021-24644-1
PMCID:
PMC8277899
AbstractArticlePDF–3.1M

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