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Select item 109094451.

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

Abstract Article PDF–11M

Select item 108324762.

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

Abstract Article PDF–3.0M

Select item 107779313.

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

Abstract Article PDF–4.9M

Select item 103571714.

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

Abstract Article PDF–491K

Select item 95399025.

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

Abstract Article PDF–27M

Select item 95150736.

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

Abstract Article PDF–5.3M

Select item 93733707.

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

Abstract Article PDF–3.2M

Select item 93716578.

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

Abstract Article PDF–2.8M

Select item 93352389.

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

Abstract Article PDF–3.4M

Select item 918744510.

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

Abstract Article PDF–2.2M

Select item 901305911.

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

Abstract Article PDF–3.0M

Select item 897724212.

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

Abstract Article PDF–546K

Select item 897142813.

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

Abstract Article PDF–1.5M

Select item 860985614.

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

Abstract Article PDF–7.2M

Select item 858009115.

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

Abstract Article PDF–952K

Select item 844751316.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Valérie Biancalana, John Rendu, Annabelle Chaussenot, Helen Mecili, Eric Bieth, Mélanie Fradin, Sandra Mercier, Maud Michaud, Marie-Christine Nougues, Laurent Pasquier, Sabrina Sacconi, Norma B. Romero, Pascale Marcorelles, François Jérôme Authier, Antoinette Gelot Bernabe, Emmanuelle Uro-Coste, Claude Cances, Bertrand Isidor, Armelle Magot, Marie-Christine Minot-Myhie, Yann Péréon, Julie Perrier-Boeswillwald, Gilles Bretaudeau, Nicolas Dondaine, Alison Bouzenard, Mégane Pizzimenti, Bruno Eymard, Ana Ferreiro, Jocelyn Laporte, Julien Fauré, Johann Böhm

Acta Neuropathol Commun. 2021; 9: 155. Published online 2021 Sep 17. doi: 10.1186/s40478-021-01254-y

PMCID:: PMC8447513

Abstract Article PDF–5.9M

Select item 840852717.

Structural and functional interactions between the Ca²⁺-, ATP-, and caffeine-binding sites of skeletal muscle ryanodine receptor (RyR1)

Venkat R. Chirasani, Daniel A. Pasek, Gerhard Meissner

J Biol Chem. 2021 Sep; 297(3): 101040. Published online 2021 Aug 2. doi: 10.1016/j.jbc.2021.101040

PMCID:: PMC8408527

Abstract Article PDF–3.3M

Select item 837630118.

The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol

Luuk R. van den Bersselaar, Nick Kruijt, Gert-Jan Scheffer, Lucas van Eijk, Ignacio Malagon, Stan Buckens, José AE Custers, Leonie Helder, Anna Greco, Leo AB Joosten, Baziel GM van Engelen, Nens van Alfen, Sheila Riazi, Susan Treves, Heinz Jungbluth, Marc MJ Snoeck, Nicol C. Voermans

Medicine (Baltimore) 2021 Aug 20; 100(33): e26999. Published online 2021 Aug 20. doi: 10.1097/MD.0000000000026999

PMCID:: PMC8376301

Abstract Article PDF–262K

Select item 787324519.

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance

Kerstin Hoppe, Karin Jurkat-Rott, Stefanie Kranepuhl, Scott Wearing, Sebastian Heiderich, Sonja Merlak, Werner Klingler

Sci Rep. 2021; 11: 3445. Published online 2021 Feb 9. doi: 10.1038/s41598-021-82024-7

PMCID:: PMC7873245

Abstract Article PDF–1.0M

Select item 780110220.

Effects of Remimazolam and Propofol on Ca²⁺ Regulation by Ryanodine Receptor 1 with Malignant Hyperthermia Mutation

Tomoyuki Watanabe, Hirotsugu Miyoshi, Yuko Noda, Soshi Narasaki, Atsushi Morio, Yukari Toyota, Hiroshi Kimura, Keiko Mukaida, Toshimichi Yasuda, Yasuo M. Tsutsumi

Biomed Res Int. 2021; 2021: 8845129. Published online 2021 Jan 4. doi: 10.1155/2021/8845129

PMCID:: PMC7801102

Abstract Article PDF–1.2M

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