Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Autor: Kushnir A; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Todd JJ; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Witherspoon JW; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Yuan Q; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Reiken S; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Lin H; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Munce RH; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Wajsberg B; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Melville Z; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Clarke OB; Department of Anesthesiology, Columbia University Irving Medical Center, New York, NY, USA., Wedderburn-Pugh K; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Wronska A; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Shelton MO; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Mankodi A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Tanji K; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, NY, USA., Riazi S; Department of Anesthesia, University of Toronto and Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Toronto, Ontario, Canada., Kraeva N; Department of Anesthesia, University of Toronto and Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Toronto, Ontario, Canada., Voermans NC; Department of Neurology, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Gruber A; PreventionGenetics, Marshfield, WI, USA., Allen C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA., Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. Katy.balk@gmail.com., Marks AR; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA. arm42@cumc.columbia.edu.; Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, NY, USA. arm42@cumc.columbia.edu.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2020 Jun; Vol. 139 (6), pp. 1089-1104. Date of Electronic Publication: 2020 Mar 31.

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.

Autor: Magyar, Zsuzsanna É.¹ (AUTHOR), Hevesi, Judit^2,3 (AUTHOR), Groom, Linda⁴ (AUTHOR), Dirksen, Robert T.⁴ (AUTHOR), Almássy, János⁵ (AUTHOR) almassy.janos@med.semmelweis-univ.hu

Publikováno v: Scientific Reports. 9/5/2023, Vol. 13 Issue 1, p1-9. 9p.

RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation.

Autor: Yuan, Qi¹ (AUTHOR), Dridi, Haikel¹ (AUTHOR), Clarke, Oliver B.^1,2,3 (AUTHOR), Reiken, Steven¹ (AUTHOR), Melville, Zephan¹ (AUTHOR), Wronska, Anetta¹ (AUTHOR), Kushnir, Alexander¹ (AUTHOR), Zalk, Ran⁴ (AUTHOR), Sittenfeld, Leah¹ (AUTHOR), Marks, Andrew R.^1,3 (AUTHOR) arm42@columbia.edu

Publikováno v: Acta Neuropathologica Communications. 11/22/2021, Vol. 9 Issue 1, p1-15. 15p.

Neglected wardens: T lymphocyte ryanodine receptors.

Publikováno v: Journal of Physiology; Oct2021, Vol. 599 Issue 19, p4415-4426, 12p

Neuromuscular Disorders : A Comprehensive Review with Illustrative Cases

Autor: Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel

This book provides a concise overview of the diagnosis, therapy, and recent updates of various neuromuscular disorders in tabulated form and with illustrative cases. Treating neuromuscular disorders requires a sound, step-by-step clinical approach ba