Cover image for Ion Channels and Disease.
Ion Channels and Disease.
Title:
Ion Channels and Disease.
Author:
Ashcroft, Frances M.
ISBN:
9780080535210
Personal Author:
Edition:
1st ed.
Physical Description:
1 online resource (505 pages)
Series:
Quantitative Finance
Contents:
Front Cover -- Ion Channels and Disease -- Copyright Page -- CONTENTS -- PREFACE -- CHAPTER 1. INTRODUCTION -- CHAPTER 2. FROM GENE TO PROTEIN -- Basic Genetics -- CHAPTER 3. HOW ION CHANNELS WORK -- Properties of Single-Channel Currents -- From Single Channels to Macroscopic Currents -- From Whole-Cell Currents to Membrane Potential Changes -- CHAPTER 4. STUDYING ION CHANNELS -- Investigating Ion Channel Function -- Obtaining the Primary Sequence -- Investigating Ion Channel Structure -- Genetic Analysis of Ion Channels and Disease -- CHAPTER 5. VOLTAGE-GATED Na+ CHANNELS -- Diseases of Muscle Na+ Channels -- Diseases of Neuronal Na+ Channels -- CHAPTER 6. VOLTAGE-GATED K+ CHANNELS -- KV Channels -- KV Channels and Disease -- KCNQ Channels -- KCNQ Channels and Disease -- Eag-Like KV Channels -- Eag-like KV Channels and Disease -- CHAPTER 7. Ca2+-ACTIVATED K+ CHANNELS -- Maxi KCa (BK) Channels -- Small KCa Channels -- Myotonic Muscular Dystrophy -- Intermediate KCa Channels -- CHAPTER 8. INWARDLY RECTIFYING K+ CHANNELS -- Diseases Associated with Kir Channels -- CHAPTER 9. VOLTAGE-GATED Ca2+ CHANNELS -- Diseases of Skeletal Muscle Ca2+ Channels -- Diseases of Neuronal Calcium Channels -- CHAPTER 10. VOLTAGE-GATED CL- CHANNELS -- Cl- Channel Diseases -- CHAPTER 11. CYCLIC NUCLEOTIDE-GATED CHANNELS -- Cyclic Nucleotide-Gated Channels -- CNG Channel Mutations Associated with Disease -- Hyperpolarization-Activated Cyclic-Nucleotide- Gated Channels -- CHAPTER 12. CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR -- Cystic Fibrosis -- CHAPTER 13. EPITHELIAL Na+ CHANNEL -- Diseases Associated with ENaC Channels -- CHAPTER 14. LIGAND-GATED Ca2+ CHANNELS -- Ryanodine Receptors -- Diseases Associated with Ryanodine -- IP3 Receptors -- Diseases Associated with IP3 Receptors -- CHAPTER 15. ACETYLCHOLINE RECEPTORS -- Diseases of Skeletal Muscle AChRs.

Diseases of Neuronal AChR -- CHAPTER 16. GLUTAMATE RECEPTORS -- Non-NMDA Receptors -- NMDA Receptors -- Glutamate Channels and Disease -- CHAPTER 17. GLYCINE RECEPTORS -- Glycine Receptors and Disease -- CHAPTER 18. GABAA RECEPTORS -- Diseases Associated with GABAA Channels -- CHAPTER 19. WATER CHANNELS -- CHAPTER 20. GAP JUNCTION CHANNELS -- Diseases of Gap Junction Channels -- CHAPTER 21. AUTOANTIBODIES TO ION CHANNELS -- Basic Immunology -- Autoantibodies Affecting Neuromuscular Transmission -- Autoantibodies to Ion Channels Not Involved in Neuromuscular Transmission -- CHAPTER 22. ION CHANNELS IN VIRUSES -- Influenza Virus -- Other Types of Viruses -- CHAPTER 23. ION CHANNELS AS LETHAL AGENTS -- Ion Channels of the Vertebrate Immune System -- Ion Channels of Bacteria, Fungi and Protozoans -- Venoms -- CHAPTER 24. A RAGBAG OF CHANNELS -- ATP-Gated Ion Channels -- Vanilloid Receptors -- Channels Involved in Programmed Cell Death -- β-Amyloid Peptide -- A LAST WORD -- BIBLIOGRAPHY -- INDEX.
Abstract:
Ion channels are membrane proteins that act as gated pathways for the movement of ions across cell membranes. They play essential roles in the physiology of all cells. In recent years, an ever-increasing number of human and animal diseases have been found to result from defects in ion channel function. Most of these diseases arise from mutations in the genes encoding ion channel proteins, and they are now referred to as the channelopathies. Ion Channels and Disease provides an informative and up-to-date account of our present understanding of ion channels and the molecular basis of ion channel diseases. It includes a basic introduction to the relevant aspects of molecular biology and biophysics and a brief description of the principal methods used to study channelopathies. For each channel, the relationship between its molecular structure and its functional properties is discussed and ways in which genetic mutations produce the disease phenotype are considered. This book is intended for research workers and clinicians, as well as graduates and advanced undergraduates. The text is clear and lively and assumes little knowledge, yet it takes the reader to frontiers of what is currently known about this most exciting and medically important area of physiology. Key Features * Introduces the relevant aspects of molecular biology and biophysics * Describes the principal methods used to study channelopathies * Considers single classes of ion channels with summaries of the physiological role, subunit composition, molecular structure and chromosomal location, plus the relationship between channel structure and function * Looks at those diseases associated with defective channel structures and regulation, including mutations affecting channel function and to what extent this change in channel function can account for the clinical phenotype.
Local Note:
Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, 2017. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries.
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