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Title:
Ryanodine Receptor Structure and Function in Health and Disease | SpringerLink
Description:
Ryanodine receptors (RyRs) are ubiquitous intracellular calcium (Ca2+) release channels required for the function of many organs including heart and skeletal muscle, synaptic transmission in the brain, pancreatic beta cell function, and vascular tone. In disease,...
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Keywords {🔍}

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Topics {✒️}

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Questions {❓}

“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Schema {🗺️}

ScholarlyArticle:
      headline:Ryanodine Receptor Structure and Function in Health and Disease
      pageEnd:352
      pageStart:329
      image:https://media.springernature.com/w153/springer-static/cover/book/978-981-10-7757-9.jpg
      genre:
         Biomedical and Life Sciences
         Biomedical and Life Sciences (R0)
      isPartOf:
         name:Membrane Protein Complexes: Structure and Function
         isbn:
            978-981-10-7757-9
            978-981-10-7756-2
         type:Book
      publisher:
         name:Springer Singapore
         logo:
            url:https://www.springernature.com/app-sn/public/images/logo-springernature.png
            type:ImageObject
         type:Organization
      author:
            name:Gaetano Santulli
            affiliation:
                  name:Columbia University Medical Center
                  address:
                     name:The Wu Center for Molecular Cardiology, Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, USA
                     type:PostalAddress
                  type:Organization
                  name:Albert Einstein College of Medicine – Montefiore University Hospital
                  address:
                     name:The Wilf Family Cardiovascular Research Institute and the Einstein-Mount Sinai Diabetes Research Center, Department of Medicine, Albert Einstein College of Medicine – Montefiore University Hospital, New York, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Daniel Lewis
            affiliation:
                  name:Columbia University
                  address:
                     name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Amedee des Georges
            affiliation:
                  name:Advanced Science Research Center at the Graduate Center of the City University of New York
                  address:
                     name:Advanced Science Research Center at the Graduate Center of the City University of New York, New York, USA
                     type:PostalAddress
                  type:Organization
                  name:City College of New York
                  address:
                     name:Department of Chemistry & Biochemistry, City College of New York, New York, USA
                     type:PostalAddress
                  type:Organization
                  name:The Graduate Center of the City University of New York
                  address:
                     name:Ph.D. Program in Biochemistry, The Graduate Center of the City University of New York, New York, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Andrew R. Marks
            affiliation:
                  name:Columbia University
                  address:
                     name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
                     type:PostalAddress
                  type:Organization
                  name:Columbia University
                  address:
                     name:Department of Medicine, Columbia University, New York, USA
                     type:PostalAddress
                  type:Organization
            type:Person
            name:Joachim Frank
            affiliation:
                  name:Columbia University
                  address:
                     name:Department of Biochemistry and Molecular Biophysics, Columbia University, New York, USA
                     type:PostalAddress
                  type:Organization
                  name:Columbia University
                  address:
                     name:Department of Biological Sciences, Columbia University, New York, USA
                     type:PostalAddress
                  type:Organization
            email:[email protected]
            type:Person
      keywords:Ryanodine receptor (RyR), Calcium release channel, Cryo-EM, Endoplasmic reticulum, Sarcoplasmic reticulum
      description:Ryanodine receptors (RyRs) are ubiquitous intracellular calcium (Ca2+) release channels required for the function of many organs including heart and skeletal muscle, synaptic transmission in the brain, pancreatic beta cell function, and vascular tone. In disease, defective function of RyRs due either to stress (hyperadrenergic and/or oxidative overload) or genetic mutations can render the channels leaky to Ca2+ and promote defective disease-causing signals as observed in heat failure, muscular dystrophy, diabetes mellitus, and neurodegerative disease. RyRs are massive structures comprising the largest known ion channel-bearing macromolecular complex and exceeding 3 million Daltons in molecular weight. RyRs mediate the rapid release of Ca2+ from the endoplasmic/sarcoplasmic reticulum (ER/SR) to stimulate cellular functions through Ca2+-dependent processes. Recent advances in single-particle cryogenic electron microscopy (cryo-EM) have enabled the determination of atomic-level structures for RyR for the first time. These structures have illuminated the mechanisms by which these critical ion channels function and interact with regulatory ligands. In the present chapter we discuss the structure, functional elements, gating and activation mechanisms of RyRs in normal and disease states.
      datePublished:2018
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Book:
      name:Membrane Protein Complexes: Structure and Function
      isbn:
         978-981-10-7757-9
         978-981-10-7756-2
Organization:
      name:Springer Singapore
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      name:Columbia University Medical Center
      address:
         name:The Wu Center for Molecular Cardiology, Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, USA
         type:PostalAddress
      name:Albert Einstein College of Medicine – Montefiore University Hospital
      address:
         name:The Wilf Family Cardiovascular Research Institute and the Einstein-Mount Sinai Diabetes Research Center, Department of Medicine, Albert Einstein College of Medicine – Montefiore University Hospital, New York, USA
         type:PostalAddress
      name:Columbia University
      address:
         name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
         type:PostalAddress
      name:Advanced Science Research Center at the Graduate Center of the City University of New York
      address:
         name:Advanced Science Research Center at the Graduate Center of the City University of New York, New York, USA
         type:PostalAddress
      name:City College of New York
      address:
         name:Department of Chemistry & Biochemistry, City College of New York, New York, USA
         type:PostalAddress
      name:The Graduate Center of the City University of New York
      address:
         name:Ph.D. Program in Biochemistry, The Graduate Center of the City University of New York, New York, USA
         type:PostalAddress
      name:Columbia University
      address:
         name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
         type:PostalAddress
      name:Columbia University
      address:
         name:Department of Medicine, Columbia University, New York, USA
         type:PostalAddress
      name:Columbia University
      address:
         name:Department of Biochemistry and Molecular Biophysics, Columbia University, New York, USA
         type:PostalAddress
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      address:
         name:Department of Biological Sciences, Columbia University, New York, USA
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Person:
      name:Gaetano Santulli
      affiliation:
            name:Columbia University Medical Center
            address:
               name:The Wu Center for Molecular Cardiology, Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, USA
               type:PostalAddress
            type:Organization
            name:Albert Einstein College of Medicine – Montefiore University Hospital
            address:
               name:The Wilf Family Cardiovascular Research Institute and the Einstein-Mount Sinai Diabetes Research Center, Department of Medicine, Albert Einstein College of Medicine – Montefiore University Hospital, New York, USA
               type:PostalAddress
            type:Organization
      name:Daniel Lewis
      affiliation:
            name:Columbia University
            address:
               name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
               type:PostalAddress
            type:Organization
      name:Amedee des Georges
      affiliation:
            name:Advanced Science Research Center at the Graduate Center of the City University of New York
            address:
               name:Advanced Science Research Center at the Graduate Center of the City University of New York, New York, USA
               type:PostalAddress
            type:Organization
            name:City College of New York
            address:
               name:Department of Chemistry & Biochemistry, City College of New York, New York, USA
               type:PostalAddress
            type:Organization
            name:The Graduate Center of the City University of New York
            address:
               name:Ph.D. Program in Biochemistry, The Graduate Center of the City University of New York, New York, USA
               type:PostalAddress
            type:Organization
      name:Andrew R. Marks
      affiliation:
            name:Columbia University
            address:
               name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
               type:PostalAddress
            type:Organization
            name:Columbia University
            address:
               name:Department of Medicine, Columbia University, New York, USA
               type:PostalAddress
            type:Organization
      name:Joachim Frank
      affiliation:
            name:Columbia University
            address:
               name:Department of Biochemistry and Molecular Biophysics, Columbia University, New York, USA
               type:PostalAddress
            type:Organization
            name:Columbia University
            address:
               name:Department of Biological Sciences, Columbia University, New York, USA
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      email:[email protected]
PostalAddress:
      name:The Wu Center for Molecular Cardiology, Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, USA
      name:The Wilf Family Cardiovascular Research Institute and the Einstein-Mount Sinai Diabetes Research Center, Department of Medicine, Albert Einstein College of Medicine – Montefiore University Hospital, New York, USA
      name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
      name:Advanced Science Research Center at the Graduate Center of the City University of New York, New York, USA
      name:Department of Chemistry & Biochemistry, City College of New York, New York, USA
      name:Ph.D. Program in Biochemistry, The Graduate Center of the City University of New York, New York, USA
      name:Department of Physiology and Cellular Biophysics, Columbia University, New York, USA
      name:Department of Medicine, Columbia University, New York, USA
      name:Department of Biochemistry and Molecular Biophysics, Columbia University, New York, USA
      name:Department of Biological Sciences, Columbia University, New York, USA
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