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.
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.
- 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
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"...this volume is a gem of large proportion. The clear writing style, comprehensive coverage, up to date information and low cost mandate a most enthusiastic recommendation to any physician interested in the mechanisms of epilepsy." --EPILEPSY RESEARCH, February 2001 "The book is self-contained in the sense that it provides all the background knowledge necessary to understand the field. ...It manages to communicate complex ideas with clarity, precision and efficiency, and I personally enjoyed the sense of history that pervades the book, as well as the lucid style in which it is written." --Blanche Schwappach, Universitate Heidelberg, in NATURE CELL BIOLOGY, September 2000
"...a fascinating and accessible account of ion-channel diseases. Each chapter is illustrated with useful figures and diagrams...a very good introduction to the whole field of ion channels, and will be useful for researchers, clinicians and students. ...It is the favourite of several of my colleagues." --Thomas J. Jentsch in NATURE, July 2000
"This is a well documented and informative treatise on ion channels and associated pathologies. Experimental details are omitted without compromising clarity and understanding, making this an easy to read reference source... The audience is broad, ranging from advanced undergraduates to clinicians and researchers. The author reaches this large group with a balance among introductory scientific details, relevance, and completeness... Researchers will appreciate the full range of topics and extensive bibliography. Clinicians will find molecular explanations of pathologies such as retinitis pigmentosa, cystic fibrosis, and Charcot-Marie-Tooth Disease enlightening... This much needed book is informative, readable, and worth having." --DOODY'S PUBLISHING REVIEWS, 2000
"This relevant and timely book provides an extensive and excellent overview of membrane channels and their potential involvement in disease. ...The book is well written and enjoyable to read. Given the rapid advance of knowledge in this field, the content is amazingly up-to-date. This book is an excellent overview text for the advanced undergraduate or beginning graduate student and would be beneficial to the ion channel researcher as well as established scientists whose expertise is in unrelated areas. ... I believe that this text also provides and excellent and essential source of information for clinicians wishing to better understand the relevance of "channelopathies" to the presentation of disease. Dr. Ashcroft has certainly hit the mark." --Rodney L. Parsons, University of Vermont, in CELL
"...a fascinating and accessible account of ion-channel diseases. Each chapter is illustrated with useful figures and diagrams...a very good introduction to the whole field of ion channels, and will be useful for researchers, clinicians and students. ...It is the favourite of several of my colleagues." --Thomas J. Jentsch in NATURE, July 2000
"This is a well documented and informative treatise on ion channels and associated pathologies. Experimental details are omitted without compromising clarity and understanding, making this an easy to read reference source... The audience is broad, ranging from advanced undergraduates to clinicians and researchers. The author reaches this large group with a balance among introductory scientific details, relevance, and completeness... Researchers will appreciate the full range of topics and extensive bibliography. Clinicians will find molecular explanations of pathologies such as retinitis pigmentosa, cystic fibrosis, and Charcot-Marie-Tooth Disease enlightening... This much needed book is informative, readable, and worth having." --DOODY'S PUBLISHING REVIEWS, 2000
"This relevant and timely book provides an extensive and excellent overview of membrane channels and their potential involvement in disease. ...The book is well written and enjoyable to read. Given the rapid advance of knowledge in this field, the content is amazingly up-to-date. This book is an excellent overview text for the advanced undergraduate or beginning graduate student and would be beneficial to the ion channel researcher as well as established scientists whose expertise is in unrelated areas. ... I believe that this text also provides and excellent and essential source of information for clinicians wishing to better understand the relevance of "channelopathies" to the presentation of disease. Dr. Ashcroft has certainly hit the mark." --Rodney L. Parsons, University of Vermont, in CELL