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Items: 1 to 20 of 118

1.
Abnormal myosin post‐translational modifications and ATP turnover time associated with human congenital myopathy‐related RYR1 mutations
Alexander Sonne, Anna Katarina Antonovic, Elise Melhedegaard, Fariha Akter, Jesper L. Andersen, Heinz Jungbluth, Nanna Witting, John Vissing, Edmar Zanoteli, Arianna Fornili, Julien Ochala
Acta Physiol (Oxf) 2023 Oct; 239(2): e14035. Published online 2023 Aug 21. doi: 10.1111/apha.14035
PMCID:
PMC10909445
AbstractArticlePDF–11M
2.
Structural and functional interactions between the EF hand domain and S2–S3 loop in the type-1 ryanodine receptor ion channel
Venkat R. Chirasani, Millar Elferdink, MacKenzie Kral, Jordan S. Carter, Savannah Heitmann, Gerhard Meissner, Naohiro Yamaguchi
J Biol Chem. 2024 Feb; 300(2): 105606. Published online 2023 Dec 28. doi: 10.1016/j.jbc.2023.105606
PMCID:
PMC10832476
AbstractArticlePDF–3.0M
3.
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy
Kelly Godbout, Joël Rousseau, Jacques P. Tremblay
Cells. 2024 Jan; 13(1): 31. Published online 2023 Dec 22. doi: 10.3390/cells13010031
PMCID:
PMC10777931
AbstractArticlePDF–4.9M
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.
The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation
Xin Gu, Christopher Nardone, Nolan Kamitaki, Aoyue Mao, Stephen J. Elledge, Michael E. Greenberg
Science. Author manuscript; available in PMC 2023 Oct 31.
Published in final edited form as: Science. 2023 Aug 25; 381(6660): eadh5021. Published online 2023 Aug 25. doi: 10.1126/science.adh5021
PMCID:
PMC10617673
AbstractArticlePDF–3.6M
6.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility
Luuk R. van den Bersselaar, Nens van Alfen, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A. Fernandez-Garcia, Susan Treves, Sheila Riazi, Chu-Ya Yang, Ignacio Malagon, Lucas T. van Eijk, Baziel G.M. van Engelen, Gert-Jan Scheffer, Heinz Jungbluth, Marc M.J. Snoeck, Nicol C. Voermans
J Neuromuscul Dis. 2023; 10(4): 541–554. Prepublished online 2023 May 2. Published online 2023 Jul 4. doi: 10.3233/JND-230018
PMCID:
PMC10357171
AbstractArticlePDF–491K
7.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy
Gaetano Nicola Alfio Vattemi, Daniela Rossi, Lucia Galli, Maria Rosaria Catallo, Elia Pancheri, Giulia Marchetto, Barbara Cisterna, Manuela Malatesta, Enrico Pierantozzi, Paola Tonin, Vincenzo Sorrentino
Eur J Neurosci. 2022 Aug; 56(3): 4214–4223. Published online 2022 Jun 13. doi: 10.1111/ejn.15728
PMCID:
PMC9539902
AbstractArticlePDF–27M
8.
The ryanodine receptor mutational characteristics and its indication for cancer prognosis
Fenglin Wang, Jingbo Yu, Ping Lin, Charalampos Sigalas, Shibo Zhang, Yuan Gong, Rebecca Sitsapesan, Lele Song
Sci Rep. 2022; 12: 16113. Published online 2022 Sep 27. doi: 10.1038/s41598-022-19905-y
PMCID:
PMC9515073
AbstractArticlePDF–5.3M
9.
Ryanodine receptor 1-mediated Ca2+ signaling and mitochondrial reprogramming modulate uterine serous cancer malignant phenotypes
Li Zhang, Chi-Lam Au-Yeung, Chunxian Huang, Tsz-Lun Yeung, Sammy Ferri-Borgogno, Barrett C. Lawson, Suet-Ying Kwan, Zheng Yin, Stephen T. Wong, Vienna Thomas, Karen H. Lu, Kay-Pong Yip, James S. K. Sham, Samuel C. Mok
J Exp Clin Cancer Res. 2022; 41: 242. Published online 2022 Aug 11. doi: 10.1186/s13046-022-02419-w
PMCID:
PMC9373370
AbstractArticlePDF–3.2M
10.
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating
Kotaro Oyama, Vadim Zeeb, Toshiko Yamazawa, Nagomi Kurebayashi, Fuyu Kobirumaki-Shimozawa, Takashi Murayama, Hideto Oyamada, Satoru Noguchi, Takayoshi Inoue, Yukiko U. Inoue, Ichizo Nishino, Yoshie Harada, Norio Fukuda, Shin’ichi Ishiwata, Madoka Suzuki
Proc Natl Acad Sci U S A. 2022 Aug 9; 119(32): e2201286119. Published online 2022 Aug 4. doi: 10.1073/pnas.2201286119
PMCID:
PMC9371657
AbstractArticlePDF–2.8M
11.
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM
Kavita A. Iyer, Yifan Hu, Thomas Klose, Takashi Murayama, Montserrat Samsó
Proc Natl Acad Sci U S A. 2022 Jul 26; 119(30): e2122140119. Published online 2022 Jul 22. doi: 10.1073/pnas.2122140119
PMCID:
PMC9335238
AbstractArticlePDF–3.4M
12.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
13.
Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach
Xi Wang, Chang Kong, Pan Liu, Wujun Geng, Hongli Tang
Dis Markers. 2022; 2022: 8787782. Published online 2022 May 23. doi: 10.1155/2022/8787782
PMCID:
PMC9187445
AbstractArticlePDF–2.2M
14.
Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation
Shuaixia Yu, Yang Wang, Baijie Tang, Xiang Liu, Linhong Song, Gang Xu, Hong Zhu, Huajun Sun
World J Surg Oncol. 2022; 20: 142. Published online 2022 May 4. doi: 10.1186/s12957-022-02601-6
PMCID:
PMC9066904
AbstractArticlePDF–3.4M
15.
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
Acta Neuropathol Commun. 2022; 10: 54. Published online 2022 Apr 15. doi: 10.1186/s40478-022-01357-0
PMCID:
PMC9013059
AbstractArticlePDF–3.0M
16.
Glycation of ryanodine receptor in circulating lymphocytes predicts the response to cardiac resynchronization therapy
Jessica Gambardella, Stanislovas S. Jankauskas, Salvatore Luca D'Ascia, Celestino Sardu, Alessandro Matarese, Fabio Minicucci, Pasquale Mone, Gaetano Santulli
J Heart Lung Transplant. Author manuscript; available in PMC 2022 Apr 4.
Published in final edited form as: J Heart Lung Transplant. 2022 Apr; 41(4): 438–441. Published online 2021 Dec 26. doi: 10.1016/j.healun.2021.12.008
PMCID:
PMC8977242
AbstractArticlePDF–546K
17.
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population
Claribel Tian Yu Foo, Yi Hui To, Astrid Irwanto, Alvin Yu-Jin Ng, Benedict Yan, Sophia Tsong Huey Chew, Jianjun Liu, Lian Kah Ti
Sci Rep. 2022; 12: 5429. Published online 2022 Mar 31. doi: 10.1038/s41598-022-09310-w
PMCID:
PMC8971428
AbstractArticlePDF–1.5M
18.
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
19.
RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation
Qi Yuan, Haikel Dridi, Oliver B. Clarke, Steven Reiken, Zephan Melville, Anetta Wronska, Alexander Kushnir, Ran Zalk, Leah Sittenfeld, Andrew R. Marks
Acta Neuropathol Commun. 2021; 9: 186. Published online 2021 Nov 22. doi: 10.1186/s40478-021-01287-3
PMCID:
PMC8609856
AbstractArticlePDF–7.2M
20.
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries
Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert Hopkin, Cameron Thomas, David Cooper, Kristen Suhrie
Mol Genet Genomic Med. 2021 Oct; 9(10): e1804. Published online 2021 Sep 16. doi: 10.1002/mgg3.1804
PMCID:
PMC8580091
AbstractArticlePDF–952K

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