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 (RYR-1-RD). 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

Engineered pegRNAs improve prime editing efficiency

Authors: James W. Nelson, Peyton B. Randolph, Simon P. Shen, Kelcee A. Everette, Peter J. Chen, Andrew V. Anzalone, Meirui An, Gregory A. Newby, Jonathan C. Chen, Alvin Hsu and David R. Liu...

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

Authors: Andrea Klein, MD; Heinz Jungbluth, PhD; Emma Clement, MD, ChB; Suzanne Lillis, MSc, BSc; Stephen Abbs, PhD; Pinki Munot, MD; Marika Pane, MD, PhD; Elizabeth Wraige, MD; Ulrike Schara, MD; Volker Straub, MD, PhD; Eugenio Mercuri, PhD; Francesco Muntoni, MD...

Acute RyR1 Ca2+ leak enhances NADH-linked mitochondrial respiratory capacity

Authors: 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...

Ryanodine receptor leak triggers fiber Ca2+ redistribution to preserve force and elevate basal metabolism in skeletal muscle

Authors: Cedric R. Lamboley, Luke Pearce, Crystal Seng, Aldo Meizoso-Huesca, Daniel P. Singh, Barnaby P. Frankish, Vikas Kaura, Harriet P. Lo, Charles Ferguson, Paul D. Allen, Philip M. Hopkins, Robert G. Parton, Robyn M. Murphy, Chris van der Poel, Christopher J. Barclay, Bradley S. Launikonis...