Ion Channels in Health and Disease 1st Edition by Geoffrey Pitt 0128020173 9780128020173

Ion Channels in Health and Disease 1st Edition by Geoffrey S. Pitt – Ebook PDF Instant Download/DeliveryISBN:  0128020173, 9780128020173

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ISBN-10 ‏ : ‎0128020173 

ISBN-13 ‏ : ‎ 9780128020173

Author: Geoffrey S. Pitt 

Ion Channels in Health and Disease provides key insight to allow researchers to generate discoveries across disease states. A single resource that integrates disparate areas of biology and disease ion channel biology, this publication includes cross-referencing for disease, channels, and tissues. Offers a broad view of research of interest to early and experienced researchers across biological and biomedical research.

 Ion Channels in Health and Disease 1st Table of contents:

Chapter 1. The KCNE Family of Ion Channel Regulatory Subunits
Introduction
The Mechanistic Basis for Function of KCNE Proteins
Roles of KCNE Subunits in Cardiac Ion Currents and Arrhythmogenesis
Conclusions and Future Questions
Chapter 2. Ion Channel Trafficking
Introduction
Cardiomyocyte Organization
Trafficking in Healthy and Diseased Hearts
Conclusions
Chapter 3. Ryanodine Receptor Channelopathies in Skeletal and Cardiac Muscle
Introduction to Ryanodine Receptors
RYR1 Myopathies
RYR2-Linked Myopathies
Summary/Conclusion
Chapter 4. Dravet Syndrome: A Sodium Channel Interneuronopathy
Introduction
Voltage-Gated Sodium Channels
NaV1.1 Channels and Inherited Epilepsy
Dravet Syndrome
Epilepsy and Premature Death in Dravet Syndrome
Comorbidities in a Mouse Model of Dravet Syndrome
Genetic and Pharmacological Treatment of Dravet Syndrome
Genetic Background Effects in Dravet Syndrome
Genetic Dissection of Phenotypes in Dravet Syndrome
Dravet Syndrome as a Sodium Channel Interneuronopathy
Contrasting Views From Studies of Human-Induced Pluripotent Stem Cells
Chapter 5. Diagnosis, Treatment, and Mechanisms of Long QT Syndrome
Introduction
Diagnosis of Long QT Syndrome
Clinical Course
Genes Responsible for Long QT Syndrome
Acquired Long QT
Treatment Strategies
Conclusions
Chapter 6. Ion Channels in Cancer
Introduction
Ion Channels Identified in Cancers
Regulation of Ion Channel Expression in Cancer
Ion Channel Function in Cancer Cells
Ion Channel Involvement in the Hallmarks of Cancer
Ion Channels as Therapeutic Targets
Concluding Remarks
Chapter 7. TMEM16 Membrane Proteins in Health and Disease
The Discoveries Concerning the TMEM16 Family
Evolution and Functional Divergence of TMEM16 Homologues
Structure and Function of the Calcium-Activated TMEM16 Proteins
TMEM16 Proteins in Health and Disease
Conclusions
Chapter 8. KATP Channels in the Pancreas: Hyperinsulinism and Diabetes
Molecular Basis and Structure of the KATP Channel
Modulation of the Pancreatic KATP Activity: Nucleotide Binding to the Kir6.2 Subunit
Modulation of the Pancreatic KATP Activity: Nucleotide and Drug Interaction With the SUR1 Subunits
Lipid Modulation of KATP Channel Activity
The Role of β-Cell KATP Channel in Insulin Secretion
Congenital Hyperinsulinism
Animal Models of Reduced KATP Channel Activity: Insights to Hyperinsulinemia
Neonatal Diabetes Mellitus
Mechanisms of KATP-Induced Diabetes and Implications for Disease Severity
Secondary Mechanisms in Neonatal Diabetes Mellitus
Treatability of Neonatal Diabetes Mellitus
Variants in the β-Cell KATP as a Risk Factor in Type-2 Diabetes
Animal Models of Increased KATP Channel Activity: Insights to Diabetes
Chapter 9. The Role of Sperm Ion Channels in Reproduction
Sperm Cell: Morphology and Organization
CatSper Channel: A Principal Calcium Channel of Sperm
Voltage-Gated Proton Channel of Sperm
Other Ion Channels of Sperm
Conclusions
Chapter 10. Mutations of Sodium Channel SCN8A (Nav1.6) in Neurological Disease
Evolution of the Sodium Channel Gene Family
Gene Structure, Transcription, and Alternatively Spliced Exons of SCN8A
Nav1.6 Protein Structure and Function
Subcellular Localization of Nav1.6 in Neurons
Subcellular Localization of Nav1.6 in Cardiac Myocytes
Biophysical Properties of Nav1.6 and Their Influence on Neuronal Firing Patterns
Protein Interactions With Nav1.6
Mutations of Scn8a in Mice With Movement Disorders
Discovery of Mutations of Human SCN8A
Mutations of SCN8A in Early Infantile Epileptic Encephalopathy (EIEE13)
Treatment of Epilepsy Associated With SCN8A Mutations
Modeling SCN8A Epileptic Encephalopathy in the Mouse
Mutations of SCN8A in Intellectual Disability Without Seizures
Effects of Patient Mutations of SCN8A on Channel Function
Conclusions
Chapter 11. Alternative Splicing and RNA Editing of Voltage-Gated Ion Channels: Implications in Health and Disease
Posttranscriptional Modifications of Voltage-Gated Ion Channels
Alternative Splicing of Voltage-Gated Calcium Channels and Diseases
Alternative Splicing of Voltage-Gated Potassium Channels and Diseases
Alternative Splicing of Voltage-Gated Sodium Channels and Diseases
ADAR2-Mediated RNA Editing
Conclusion
Chapter 12. Computational Modeling of Cardiac K+ Channels and Channelopathies
Introduction
Atomic Scale Models to Reveal Structural Determinants of hERG Channels and Channelopathies
Computational Models to Reveal Functional Determinants of Cardiac K+ Channels and Channelopathies
Summary
Chapter 13. Connexins and Heritable Human Diseases
Introduction
Connexins, Connexons, and Gap Junction Channels
Connexins and Heritable Human Diseases
Summary
Chapter 14. Complexity of Molecular Genetics in the Inherited Cardiac Arrhythmias
Introduction
Genetic Architecture of the Cardiac Channelopathies
The Cardiac Action Potential
Disorders Related to Potassium Channels and Their Associated Proteins
Disorders Related to Sodium Channels and Their Associated Proteins
Disorders Related to Calcium Channels and Their Associated Proteins
Disorders Related to Hyperpolarization-Activated Cyclic Nucleotide–Gated Channels
Other Disorders

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