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News & Articles

Welcome to our News & Article web page. Here you will find The RYR-1 Foundation’s monthly newsletters, news/press releases, and pertinent medical journal articles.

There is growing medical literature on RYR-1-Related Diseases. Please email info@ryr1.org if there are articles that you think would be valuable to post here. The most recent medical journal articles can be found on PubMed below.

 

PubMed RYR-1-RD Medical Journal Articles

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Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis
Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

Authors: Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, & Francesco Zorzato...

Phosphorylation of RYR1 at Ser2902 decreases Ca2+ leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke
Phosphorylation of RYR1 at Ser2902 decreases Ca2+ leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke

Authors: Rachel Sue Zhen Yee, Chang Seok Lee, Ting Chang, Sung Yun Jung, Omar Yousif, Courtney Cavazos, John Colyer, Filip Van Petegem, George G. Rodney, & Susan L. Hamilton...

Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel
Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel

Authors: Kelly Godbout, Mathieu Dugas, Steven R. Reiken, Sina Ramezani, Alexia Falle, Joël Rousseau, Anetta E. Wronska, Gabriel Lamothe, Geoffrey Canet, Yaoyao Lu, Emmanuel Planel, Andrew R. Marks, & Jacques P. Tremblay...

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study
Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study

Authors: Arti M. Mistry, Georgia Saldanha, Luuk R van den Bersselaar, Greg A. Knock, Michael F. Goldberg, Maria I. Vanegas, Miguel A. Fernandez-Garcia, Susan Treves, Nicol C. Voermans, Rachel M. Tribe, & Heinz Jungbluth ...

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

Authors: Alba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic, Aurelio Hernández-Laín, Ivonne Jericó, Roberto Fernández-Torrón, Miren Maneiro, Pablo Marco-Moreno, M. Victoria Zelaya-Huerta, Benjamín Rodríguez-Santiago, Francesc Calafell, Ana Töpf, Volker Straub, Ainara Vallejo-Illarramendi, Adolfo López de Munain, Pia Gallano, & Lidia Gonzalez-Quereda...

A Clinical Approach to Rhabdomyolysis
A Clinical Approach to Rhabdomyolysis

Authors: Nicol Voermans, Salman Bhai, Nick Kruijt, Felix Kleefeld, Mads Godtfeldt Stemmerik, Gina Ravenscroft, Francis O’Connor, Pascal Laforet, & John Vissing...

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