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Select item 107787241.

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

Abstract Article PDF–4.2M

Select item 104804872.

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

Abstract Article PDF–5.2M

Select item 104670203.

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

Abstract Article PDF–2.6M

Select item 100386594.

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

Abstract Article PDF–4.0M

Select item 95467225.

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

Abstract Article PDF–6.0M

Select item 89562886.

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

Abstract Article PDF–9.6M

Select item 87948397.

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

Abstract Article PDF–1.5M

Select item 76573508.

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Laurent Pelletier, Anne Petiot, Julie Brocard, Benoit Giannesini, Diane Giovannini, Colline Sanchez, Lauriane Travard, Mathilde Chivet, Mathilde Beaufils, Candice Kutchukian, David Bendahan, Daniel Metzger, Clara Franzini Armstrong, Norma B. Romero, John Rendu, Vincent Jacquemond, Julien Fauré, Isabelle Marty

Acta Neuropathol Commun. 2020; 8: 192. Published online 2020 Nov 11. doi: 10.1186/s40478-020-01068-4

PMCID:: PMC7657350

Abstract Article PDF–4.2M

Select item 76502469.

Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia

Leon Chang, Xiaochen Liu, Christine P. Diggle, John P. Boyle, Philip M. Hopkins, Marie-Anne Shaw, Paul D. Allen

J Biol Chem. 2020 Nov 6; 295(45): 15226–15235. Published online 2020 Aug 21. doi: 10.1074/jbc.RA120.013537

PMCID:: PMC7650246

Abstract Article PDF–1.1M

Select item 738369710.

Sex‐specific alterations in whole body energetics and voluntary activity in heterozygous R163C malignant hyperthermia‐susceptible mice

Jennifer M. Rutkowsky, Trina A. Knotts, Paul D. Allen, Isaac N. Pessah, Jon J. Ramsey

FASEB J. 2020 Jun; 34(6): 8721–8733. Published online 2020 May 4. doi: 10.1096/fj.202000403

PMCID:: PMC7383697

Abstract Article PDF–478K

Select item 738339311.

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice

Moran Elbaz, Alexis Ruiz, Sven Nicolay, Chiara Tupini, Christoph Bachmann, Jan Eckhardt, Sofia Benucci, Pawel Pelczar, Susan Treves, Francesco Zorzato

J Biol Chem. 2020 Jul 24; 295(30): 10331–10339. Published online 2020 Jun 4. doi: 10.1074/jbc.RA120.013846

PMCID:: PMC7383393

Abstract Article PDF–2.4M

Select item 675534012.

Excessive Accumulation of Ca^{2 +} in Mitochondria of Y522S-RYR1 Knock-in Mice: A Link Between Leak From the Sarcoplasmic Reticulum and Altered Redox State

Marta Canato, Paola Capitanio, Lina Cancellara, Luigi Leanza, Anna Raffaello, Denis Vecellio Reane, Lorenzo Marcucci, Antonio Michelucci, Feliciano Protasi, Carlo Reggiani

Front Physiol. 2019; 10: 1142. Published online 2019 Sep 13. doi: 10.3389/fphys.2019.01142

PMCID:: PMC6755340

Abstract Article PDF–3.8M

Select item 673725413.

Mouse model of severe recessive RYR1-related myopathy

Stephanie Brennan, Maricela Garcia-Castañeda, Antonio Michelucci, Nesrin Sabha, Sundeep Malik, Linda Groom, Lan Wei LaPierre, James J Dowling, Robert T Dirksen

Hum Mol Genet. 2019 Sep 15; 28(18): 3024–3036. Published online 2019 May 20. doi: 10.1093/hmg/ddz105

PMCID:: PMC6737254

Abstract Article PDF–7.3M

Select item 600514114.

Inositol trisphosphate receptor-mediated Ca²⁺ signalling stimulates mitochondrial function and gene expression in core myopathy patients

Matteo Suman, Jenny A Sharpe, Robert B Bentham, Vassilios N Kotiadis, Michela Menegollo, Viviana Pignataro, Jordi Molgó, Francesco Muntoni, Michael R Duchen, Elena Pegoraro, Gyorgy Szabadkai

Hum Mol Genet. 2018 Jul 1; 27(13): 2367–2382. Published online 2018 Apr 25. doi: 10.1093/hmg/ddy149

PMCID:: PMC6005141

Abstract Article PDF–1.8M

Select item 537667015.

A chemical chaperone improves muscle function in mice with a RyR1 mutation

Chang Seok Lee, Amy D. Hanna, Hui Wang, Adan Dagnino-Acosta, Aditya D. Joshi, Mark Knoblauch, Yan Xia, Dimitra K. Georgiou, Jianjun Xu, Cheng Long, Hisayuki Amano, Corey Reynolds, Keke Dong, John C. Martin, William R. Lagor, George G. Rodney, Ergun Sahin, Caroline Sewry, Susan L. Hamilton

Nat Commun. 2017; 8: 14659. Published online 2017 Mar 24. doi: 10.1038/ncomms14659

PMCID:: PMC5376670

Abstract Article PDF–6.1M

Select item 474295016.

Ryanodine Receptor Sensitization Results in Abnormal Calcium Signaling in Airway Smooth Muscle Cells

Huguette Croisier, Xiahui Tan, Jun Chen, James Sneyd, Michael J. Sanderson, Bindi S. Brook

Am J Respir Cell Mol Biol. 2015 Nov; 53(5): 703–711. doi: 10.1165/rcmb.2014-0386OC

PMCID:: PMC4742950

Abstract Article PDF–1.0M

Select item 473552417.

Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca²⁺ release channel

Dilyana Filipova, Anna M. Walter, John A. Gaspar, Anna Brunn, Nina F. Linde, Mostafa A. Ardestani, Martina Deckert, Jürgen Hescheler, Gabriele Pfitzer, Agapios Sachinidis, Symeon Papadopoulos

Sci Rep. 2016; 6: 20050. Published online 2016 Feb 1. doi: 10.1038/srep20050

Correction in:: Sci Rep. 2016; 6: 24450.

PMCID:: PMC4735524

Abstract Article PDF–1.3M

Select item 430992618.

Potassium dependent rescue of a myopathy with core-like structures in mouse

M Gartz Hanson, Jonathan J Wilde, Rosa L Moreno, Angela D Minic, Lee Niswander

eLife. 2015; 4: e02923. Published online 2015 Jan 7. doi: 10.7554/eLife.02923

PMCID:: PMC4309926

Abstract Article PDF–3.9M

Select item 378614519.

Genetic evidence for functional role of ryanodine receptor 1 in pulmonary artery smooth muscle cells

Xiao-Qiang Li, Yun-Min Zheng, Rakesh Rathore, Jianjie Ma, Hiroshi Takeshima, Yong-Xiao Wang

Pflugers Arch. Author manuscript; available in PMC 2013 Sep 29.

Published in final edited form as: Pflugers Arch. 2009 Feb; 457(4): 771–783. Published online 2008 Jul 29. doi: 10.1007/s00424-008-0556-8

PMCID:: PMC3786145

Abstract Article PDF–2.3M

Select item 378419220.

Altered Ca²⁺ concentration, permeability and buffering in the myofibre Ca²⁺ store of a mouse model of malignant hyperthermia

Carlo Manno, Lourdes Figueroa, Leandro Royer, Sandrine Pouvreau, Chang Seok Lee, Pompeo Volpe, Alessandra Nori, Jingsong Zhou, Gerhard Meissner, Susan L Hamilton, Eduardo Ríos

J Physiol. 2013 Sep 15; 591(Pt 18): 4439–4457. Published online 2013 Jun 24. doi: 10.1113/jphysiol.2013.259572

PMCID:: PMC3784192

Abstract Article PDF–2.0M

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PMC Links for Gene (Select 20190) (163)
PMC
Homo sapiens hemochromatosis splice variant 399-2283del,intron6ins mRNA, complet...
Homo sapiens hemochromatosis splice variant 399-2283del,intron6ins mRNA, complete cds
gi|11094330|gb|AF144245.1|

Nucleotide
Mus musculus ryanodine receptor 1, skeletal muscle (Ryr1), mRNA
Mus musculus ryanodine receptor 1, skeletal muscle (Ryr1), mRNA
gi|145046266|ref|NM_009109.2|

Nucleotide
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Capparis mitchellii]
gi|1033204239|gb|ANH54195.1|

Protein
Smp_181070 [Schistosoma mansoni]
Smp_181070 [Schistosoma mansoni]
Gene ID:8341019

Gene

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