Publications:

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Molecular Aspects Implicated in Dantrolene Selectivity with Respect to Ryanodine Receptor Isoforms.

International Journal Of Molecular Sciences

Gaburjakova, Jana J; Gaburjakova, Marta M

Publication Date: 2023-03-12

Variant appearance in text: RYR1: Y522S

PubMed Link: 36982484

Variant Present in the following documents:

• Main text
• ijms-24-05409.pdf

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Six weeks of N-acetylcysteine antioxidant in drinking water decreases pathological fiber branching in MDX mouse dystrophic fast-twitch skeletal muscle.

Frontiers In Physiology

Redwan, Asma A; Kiriaev, Leonit L; Kueh, Sindy S; Morley, John W JW; Houweling, Peter P; Perry, Ben D BD; Head, Stewart I SI

Publication Date: 2023

Variant appearance in text: RYR1: Y522S

PubMed Link: 36866174

Variant Present in the following documents:

• fphys-14-1109587.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RYR1: 1565A>C; Tyr522Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Ablation of Calsequestrin-1, Ca2+ unbalance, and susceptibility to heat stroke.

Frontiers In Physiology

Protasi, Feliciano F; Girolami, Barbara B; Serano, Matteo M; Pietrangelo, Laura L; Paolini, Cecilia C

Publication Date: 2022

Variant appearance in text: RYR1: Y522S

PubMed Link: 36311237

Variant Present in the following documents:

• Main text
• fphys-13-1033300.pdf

View BVdb publication page

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Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.

The Journal Of General Physiology

Tsuboi, Yoshitaka Y; Oyama, Kotaro K; Kobirumaki-Shimozawa, Fuyu F; Murayama, Takashi T; Kurebayashi, Nagomi N; Tachibana, Toshiaki T; Manome, Yoshinobu Y; Kikuchi, Emi E; Noguchi, Satoru S; Inoue, Takayoshi T; Inoue, Yukiko U YU; Nishino, Ichizo I; Mori, Shuichi S; Ishida, Ryosuke R; Kagechika, Hiroyuki H; Suzuki, Madoka M; Fukuda, Norio N; Yamazawa, Toshiko T

Publication Date: 2022-11-07

Variant appearance in text: RYR1: Y522S

PubMed Link: 36200983

Variant Present in the following documents:

• Main text
• JGP_202213136.pdf

View BVdb publication page

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Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Oyama, Kotaro K; Zeeb, Vadim V; Yamazawa, Toshiko T; Kurebayashi, Nagomi N; Kobirumaki-Shimozawa, Fuyu F; Murayama, Takashi T; Oyamada, Hideto H; Noguchi, Satoru S; Inoue, Takayoshi T; Inoue, Yukiko U YU; Nishino, Ichizo I; Harada, Yoshie Y; Fukuda, Norio N; Ishiwata, Shin'ichi S; Suzuki, Madoka M

Publication Date: 2022-08-09

Variant appearance in text: RYR1: Y522S

PubMed Link: 35925888

Variant Present in the following documents:

• pnas.202201286.pdf

View BVdb publication page

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Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Iyer, Kavita A KA; Hu, Yifan Y; Klose, Thomas T; Murayama, Takashi T; Samsó, Montserrat M

Publication Date: 2022-07-26

Variant appearance in text: RYR1: Y522S

PubMed Link: 35867837

Variant Present in the following documents:

• pnas.202122140.pdf

View BVdb publication page

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High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice.

International Journal Of Molecular Sciences

Serano, Matteo M; Paolini, Cecilia C; Michelucci, Antonio A; Pietrangelo, Laura L; Guarnier, Flavia A FA; Protasi, Feliciano F

Publication Date: 2022-05-09

Variant appearance in text: MHS: Y522S

PubMed Link: 35563676

Variant Present in the following documents:

• Main text
• ijms-23-05286.pdf

View BVdb publication page

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The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites.

Biomolecules

Rossi, Daniela D; Pierantozzi, Enrico E; Amadsun, David Osamwonuyi DO; Buonocore, Sara S; Rubino, Egidio Maria EM; Sorrentino, Vincenzo V

Publication Date: 2022-03-23

Variant appearance in text: RYR1: Y522S

PubMed Link: 35454077

Variant Present in the following documents:

• biomolecules-12-00488.pdf

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Store-Operated Ca2+ Entry in Skeletal Muscle Contributes to the Increase in Body Temperature during Exertional Stress.

International Journal Of Molecular Sciences

Girolami, Barbara B; Serano, Matteo M; Michelucci, Antonio A; Pietrangelo, Laura L; Protasi, Feliciano F

Publication Date: 2022-03-29

Variant appearance in text: RYR1: Y522S

PubMed Link: 35409132

Variant Present in the following documents:

• Main text
• ijms-23-03772.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 1565A>C; Y522S

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Modulation of Ryanodine Receptors Activity Alters the Course of Experimental Autoimmune Encephalomyelitis in Mice.

Frontiers In Physiology

Osipchuk, Natalia C NC; Soulika, Athena M AM; Fomina, Alla F AF

Publication Date: 2021

Variant appearance in text: RYR1: Y522S

PubMed Link: 35027891

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Ryanodine Receptor as a Sensor for Intracellular Environments in Muscles.

International Journal Of Molecular Sciences

Kobayashi, Takuya T; Kurebayashi, Nagomi N; Murayama, Takashi T

Publication Date: 2021-10-06

Variant appearance in text: RYR1: Y522S

PubMed Link: 34639137

Variant Present in the following documents:

• ijms-22-10795.pdf

View BVdb publication page

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

Medicine

van den Bersselaar, Luuk R LR; Kruijt, Nick N; Scheffer, Gert-Jan GJ; van Eijk, Lucas L; Malagon, Ignacio I; Buckens, Stan S; Custers, José Ae JA; Helder, Leonie L; Greco, Anna A; Joosten, Leo Ab LA; van Engelen, Baziel Gm BG; van Alfen, Nens N; Riazi, Sheila S; Treves, Susan S; Jungbluth, Heinz H; Snoeck, Marc Mj MM; Voermans, Nicol C NC

Publication Date: 2021-08-20

Variant appearance in text: RYR1: Y522S

PubMed Link: 34414986

Variant Present in the following documents:

• Main text
• medi-100-e26999.pdf

View BVdb publication page

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The influence of sex, genotype, and dose on serum and hippocampal cytokine levels in juvenile mice developmentally exposed to a human-relevant mixture of polychlorinated biphenyls.

Current Research In Toxicology

Matelski, Lauren L; Keil Stietz, Kimberly P KP; Sethi, Sunjay S; Taylor, Sandra L SL; Van de Water, Judy J; Lein, Pamela J PJ

Publication Date: 2020-06-10

Variant appearance in text: RYR1: Y522S

PubMed Link: 34296199

Variant Present in the following documents:

• Main text

View BVdb publication page

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Redox Homeostasis in Muscular Dystrophies.

Cells

Mosca, Nicola N; Petrillo, Sara S; Bortolani, Sara S; Monforte, Mauro M; Ricci, Enzo E; Piemonte, Fiorella F; Tasca, Giorgio G

Publication Date: 2021-06-01

Variant appearance in text: RYR1: Y522S

PubMed Link: 34205993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Altered Ca2+ Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.

Metabolites

Michelucci, Antonio A; Liang, Chen C; Protasi, Feliciano F; Dirksen, Robert T RT

Publication Date: 2021-06-28

Variant appearance in text: RYR1: Y522S

PubMed Link: 34203260

Variant Present in the following documents:

• Main text
• metabolites-11-00424.pdf

View BVdb publication page

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs118192162

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG

Publication Date: 2021-07

Variant appearance in text: RYR1: Y522S

PubMed Link: 33767344

Variant Present in the following documents:

• nihms-1689967.pdf
• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 7

View BVdb publication page

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Translational research on Myology and Mobility Medicine: 2021 semi-virtual PDM3 from Thermae of Euganean Hills, May 26 - 29, 2021.

European Journal Of Translational Myology

Carraro, Ugo U; Yablonka-Reuveni, Zipora Z

Publication Date: 2021-03-18

Variant appearance in text: RYR1: Y522S

PubMed Link: 33733717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: RYR1: 1565A>C; rs118192162

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine

Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH

Publication Date: 2020-12

Variant appearance in text: RYR1: Y522S

PubMed Link: 33288873

Variant Present in the following documents:

• 12276_2020_Article_535.pdf

View BVdb publication page

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Calsequestrin: a well-known but curious protein in skeletal muscle.

Experimental & Molecular Medicine

Woo, Jin Seok JS; Jeong, Seung Yeon SY; Park, Ji Hee JH; Choi, Jun Hee JH; Lee, Eun Hui EH

Publication Date: 2020-12

Variant appearance in text: RYR1: Y522S

PubMed Link: 33288873

Variant Present in the following documents:

• 12276_2020_Article_535.pdf

View BVdb publication page

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From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.

International Journal Of Molecular Sciences

Sztretye, Mónika M; Szabó, László L; Dobrosi, Nóra N; Fodor, János J; Szentesi, Péter P; Almássy, János J; Magyar, Zsuzsanna É ZÉ; Dienes, Beatrix B; Csernoch, László L

Publication Date: 2020-11-25

Variant appearance in text: MHS: Y522S

PubMed Link: 33255644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Skeletal Muscle

Lawal, Tokunbor A TA; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Bönnemann, Carsten G CG; Dowling, James J JJ; Hamilton, Susan L SL; Meilleur, Katherine G KG; Dirksen, Robert T RT

Publication Date: 2020-11-16

Variant appearance in text: RYR1: Y522S

PubMed Link: 33190635

Variant Present in the following documents:

• Main text
• 13395_2020_Article_243.pdf

View BVdb publication page

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

Acta Neuropathologica Communications

Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I

Publication Date: 2020-11-11

Variant appearance in text: RYR1: Y522S

PubMed Link: 33176865

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Nature Communications

Wang, Hui J HJ; Lee, Chang Seok CS; Yee, Rachel Sue Zhen RSZ; Groom, Linda L; Friedman, Inbar I; Babcock, Lyle L; Georgiou, Dimitra K DK; Hong, Jin J; Hanna, Amy D AD; Recio, Joseph J; Choi, Jong Min JM; Chang, Ting T; Agha, Nadia H NH; Romero, Jonathan J; Sarkar, Poonam P; Voermans, Nicol N; Gaber, M Waleed MW; Jung, Sung Yun SY; Baker, Matthew L ML; Pautler, Robia G RG; Dirksen, Robert T RT; Riazi, Sheila S; Hamilton, Susan L SL

Publication Date: 2020-10-09

Variant appearance in text: MHS: Y522S

PubMed Link: 33037202

Variant Present in the following documents:

• Main text

View BVdb publication page

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

The Journal Of Biological Chemistry

Chang, Leon L; Liu, Xiaochen X; Diggle, Christine P CP; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA; Allen, Paul D PD

Publication Date: 2020-11-06

Variant appearance in text: RYR1: Y522S

PubMed Link: 32826313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia.

Anesthesiology

Rafael Lopez, Jose J; Kaura, Vikas V; Hopkins, Phillip P; Liu, Xiaochen X; Uryach, Arkady A; Adams, Jose J; Allen, Paul D PD

Publication Date: 2020-08

Variant appearance in text: RYR1: Y522S

PubMed Link: 32665491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases

Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ

Publication Date: 2020-05-07

Variant appearance in text: RYR1: Y522S

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Rutkowsky, Jennifer M JM; Knotts, Trina A TA; Allen, Paul D PD; Pessah, Isaac N IN; Ramsey, Jon J JJ

Publication Date: 2020-06

Variant appearance in text: RYR1: Y522S

PubMed Link: 32367593

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline.

Elife

Volpatti, Jonathan R JR; Endo, Yukari Y; Knox, Jessica J; Groom, Linda L; Brennan, Stephanie S; Noche, Ramil R; Zuercher, William J WJ; Roy, Peter P; Dirksen, Robert T RT; Dowling, James J JJ

Publication Date: 2020-03-30

Variant appearance in text: RYR1: Y522S

PubMed Link: 32223895

Variant Present in the following documents:

• Main text

View BVdb publication page

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Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.

Neurology

Todd, Joshua J JJ; Lawal, Tokunbor A TA; Witherspoon, Jessica W JW; Chrismer, Irene C IC; Razaqyar, Muslima S MS; Punjabi, Monal M; Elliott, Jeffrey S JS; Tounkara, Fatoumata F; Kuo, Anna A; Shelton, Monique O MO; Allen, Carolyn C; Cosgrove, Mary M MM; Linton, Melody M; Michael, Darren D; Jain, Minal S MS; Waite, Melissa M; Drinkard, Bart B; Wakim, Paul G PG; Dowling, James J JJ; Bönnemann, Carsten G CG; Emile-Backer, Magalie M; Meilleur, Katherine G KG

Publication Date: 2020-03-31

Variant appearance in text: RYR1: Y522S

PubMed Link: 31941795

Variant Present in the following documents:

• Main text
• NEUROLOGY2019987693.pdf

View BVdb publication page

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Cored in the act: the use of models to understand core myopathies.

Disease Models & Mechanisms

Fusto, Aurora A; Moyle, Louise A LA; Gilbert, Penney M PM; Pegoraro, Elena E

Publication Date: 2019-12-19

Variant appearance in text: RYR1: Y522S

PubMed Link: 31874912

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.

The Journal Of General Physiology

Yamazawa, Toshiko T; Ogawa, Haruo H; Murayama, Takashi T; Yamaguchi, Maki M; Oyamada, Hideto H; Suzuki, Junji J; Kurebayashi, Nagomi N; Kanemaru, Kazunori K; Oguchi, Katsuji K; Sakurai, Takashi T; Iino, Masamitsu M

Publication Date: 2020-01-06

Variant appearance in text: RYR1: Y522S

PubMed Link: 31841587

Variant Present in the following documents:

• Main text
• JGP_201812235.pdf

View BVdb publication page

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Excessive Accumulation of Ca2 + in Mitochondria of Y522S-RYR1 Knock-in Mice: A Link Between Leak From the Sarcoplasmic Reticulum and Altered Redox State.

Frontiers In Physiology

Canato, Marta M; Capitanio, Paola P; Cancellara, Lina L; Leanza, Luigi L; Raffaello, Anna A; Reane, Denis Vecellio DV; Marcucci, Lorenzo L; Michelucci, Antonio A; Protasi, Feliciano F; Reggiani, Carlo C

Publication Date: 2019

Variant appearance in text: RYR1: Y522S

PubMed Link: 31607937

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Mechanism for Statin-Induced Susceptibility to Myopathy.

Jacc. Basic To Translational Science

Lotteau, Sabine S; Ivarsson, Niklas N; Yang, Zhaokang Z; Restagno, Damien D; Colyer, John J; Hopkins, Philip P; Weightman, Andrew A; Himori, Koichi K; Yamada, Takashi T; Bruton, Joseph J; Steele, Derek D; Westerblad, Håkan H; Calaghan, Sarah S

Publication Date: 2019-08

Variant appearance in text: RYR1: Y522S

PubMed Link: 31468006

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

Frontiers In Neurology

Iodice, Pierpaolo P; Boncompagni, Simona S; Pietrangelo, Laura L; Galli, Lucia L; Pierantozzi, Enrico E; Rossi, Daniela D; Fusella, Aurora A; Caulo, Massimo M; Kern, Helmut H; Sorrentino, Vincenzo V; Protasi, Feliciano F

Publication Date: 2019

Variant appearance in text: RYR1: Y522S

PubMed Link: 31191425

Variant Present in the following documents:

• fneur-10-00479.pdf

View BVdb publication page

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Crosstalk between Calcium and ROS in Pathophysiological Conditions.

Oxidative Medicine And Cellular Longevity

Feno, Simona S; Butera, Gaia G; Vecellio Reane, Denis D; Rizzuto, Rosario R; Raffaello, Anna A

Publication Date: 2019

Variant appearance in text: MHS: Y522S

PubMed Link: 31178978

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mouse model of severe recessive RYR1-related myopathy.

Human Molecular Genetics

Brennan, Stephanie S; Garcia-Castañeda, Maricela M; Michelucci, Antonio A; Sabha, Nesrin N; Malik, Sundeep S; Groom, Linda L; Wei LaPierre, Lan L; Dowling, James J JJ; Dirksen, Robert T RT

Publication Date: 2019-09-15

Variant appearance in text: RYR1: Y522S

PubMed Link: 31107960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Cell Calcium

Michelucci, Antonio A; García-Castañeda, Maricela M; Boncompagni, Simona S; Dirksen, Robert T RT

Publication Date: 2018-12

Variant appearance in text: RYR1: Y522S

PubMed Link: 30414508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Lawal, Tokunbor A TA; Todd, Joshua J JJ; Meilleur, Katherine G KG

Publication Date: 2018-10

Variant appearance in text: RYR1: Y522S

PubMed Link: 30406384

Variant Present in the following documents:

• Main text
• 13311_2018_Article_677.pdf

View BVdb publication page

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Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.

British Journal Of Anaesthesia

Lopez, J R JR; Kaura, V V; Diggle, C P CP; Hopkins, P M PM; Allen, P D PD

Publication Date: 2018-10

Variant appearance in text: RYR1: Y522S

PubMed Link: 30236258

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 1565A>C; Tyr522Ser

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Vanden Abeele, Fabien F; Lotteau, Sabine S; Ducreux, Sylvie S; Dubois, Charlotte C; Monnier, Nicole N; Hanna, Amy A; Gkika, Dimitra D; Romestaing, Caroline C; Noyer, Lucile L; Flourakis, Matthieu M; Tessier, Nolwenn N; Al-Mawla, Ribal R; Chouabe, Christophe C; Lefai, Etienne E; Lunardi, Joël J; Hamilton, Susan S; Fauré, Julien J; Van Coppenolle, Fabien F; Prevarskaya, Natalia N

Publication Date: 2019-02

Variant appearance in text: RYR1: Y522S

PubMed Link: 29930394

Variant Present in the following documents:

• Main text
• 41436_2018_Article_66.pdf

View BVdb publication page

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Oxidative Stress in Muscle Diseases: Current and Future Therapy.

Oxidative Medicine And Cellular Longevity

Serra, Andrey Jorge AJ; Prokić, Marko D MD; Vasconsuelo, Andrea A; Pinto, José Renato JR

Publication Date: 2018

Variant appearance in text: RYR1: Y522S

PubMed Link: 29854088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress.

Oxidative Medicine And Cellular Longevity

Guarnier, Flávia Alessandra FA; Michelucci, Antonio A; Serano, Matteo M; Pietrangelo, Laura L; Pecorai, Claudia C; Boncompagni, Simona S; Protasi, Feliciano F

Publication Date: 2018

Variant appearance in text: RYR1: Y522S

PubMed Link: 29849896

Variant Present in the following documents:

• Main text
• OMCL2018-4652480.pdf

View BVdb publication page

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Calcium-induced release of calcium in muscle: 50 years of work and the emerging consensus.

The Journal Of General Physiology

Ríos, Eduardo E

Publication Date: 2018-04-02

Variant appearance in text: MHS: Y522S

PubMed Link: 29514865

Variant Present in the following documents:

• Main text
• JGP_201711959.pdf

View BVdb publication page

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Voltage modulates halothane-triggered Ca2+ release in malignant hyperthermia-susceptible muscle.

The Journal Of General Physiology

Zullo, Alberto A; Textor, Martin M; Elischer, Philipp P; Mall, Stefan S; Alt, Andreas A; Klingler, Werner W; Melzer, Werner W

Publication Date: 2018-01-02

Variant appearance in text: MHS: Y522S

PubMed Link: 29247050

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Estrogens Protect Calsequestrin-1 Knockout Mice from Lethal Hyperthermic Episodes by Reducing Oxidative Stress in Muscle.

Oxidative Medicine And Cellular Longevity

Michelucci, Antonio A; Boncompagni, Simona S; Canato, Marta M; Reggiani, Carlo C; Protasi, Feliciano F

Publication Date: 2017

Variant appearance in text: RYR1: Y522S

PubMed Link: 29062464

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Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S/WT Mice.

Oxidative Medicine And Cellular Longevity

Michelucci, Antonio A; De Marco, Alessandro A; Guarnier, Flavia A FA; Protasi, Feliciano F; Boncompagni, Simona S

Publication Date: 2017

Variant appearance in text: RYR1: Y522S

PubMed Link: 29062463

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Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Anesthesiology

Riazi, Sheila S; Kraeva, Natalia N; Hopkins, Philip M PM

Publication Date: 2018-01

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PubMed Link: 28902675

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Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Michelucci, Antonio A; Paolini, Cecilia C; Boncompagni, Simona S; Canato, Marta M; Reggiani, Carlo C; Protasi, Feliciano F

Publication Date: 2017-08

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PubMed Link: 28465322

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

Nature Communications

Lee, Chang Seok CS; Hanna, Amy D AD; Wang, Hui H; Dagnino-Acosta, Adan A; Joshi, Aditya D AD; Knoblauch, Mark M; Xia, Yan Y; Georgiou, Dimitra K DK; Xu, Jianjun J; Long, Cheng C; Amano, Hisayuki H; Reynolds, Corey C; Dong, Keke K; Martin, John C JC; Lagor, William R WR; Rodney, George G GG; Sahin, Ergun E; Sewry, Caroline C; Hamilton, Susan L SL

Publication Date: 2017-03-24

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PubMed Link: 28337975

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Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.

European Journal Of Translational Myology

Lavorato, Manuela M; Gupta, Pawan K PK; Hopkins, Philip M PM; Franzini-Armstrong, Clara C

Publication Date: 2016-09-15

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PubMed Link: 28078069

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Excitation-Contraction Coupling Alterations in Myopathies.

Journal Of Neuromuscular Diseases

Marty, Isabelle I; Fauré, Julien J

Publication Date: 2016-11-29

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PubMed Link: 27911331

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