LIMITED OFFER
Save 50% on book bundles
Immediately download your ebook while waiting for your print delivery. No promo code needed.
Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leadi… Read more
LIMITED OFFER
Immediately download your ebook while waiting for your print delivery. No promo code needed.
Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development.
This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development.
This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases.
Neuroscientists, biomedical researchers, grad students, postdocs, academic/biotech researchers, clinicians
List of Contributors
Preface
Perspectives
Sixty Years of Spinal Muscular Atrophy: A Personal Odyssey
Advances in Spinal Muscular Atrophy Research
From Mapping Survival Motor Neuron to Treatment of Spinal Muscular Atrophy
The Path to Therapeutics Development for Spinal Muscular Atrophy
Section I. Clinical Features and Diagnosis of SMA
Section II. Cellular and Molecular Mechanisms of the Disease
Section III. Cell and Animal SMA Models
Section IV. Therapeutic Development
Section V. Clinical Research
Appendix 1. SMA Types, Summary
Appendix 2. SMN1 and SMN2 Copy Numbers of Commercially Available Spinal Muscular Atrophy Fibroblast and Lymphoblastoid Cell Lines
Appendix 3. Transacting Factors and cis-Elements Involved in Modulation of SMN2 Exon 7 Alternative Splicing
Appendix 4. Sequence Alignment of the SMN Proteins From Diverse Organisms and List of SMN1 Mutations Identified in Humans
Appendix 5. SMN Role in the snRNP Assembly
Appendix 6. Select SMN-Dependent and SMN-Independent Modifiers
Appendix 7. Mouse Models of SMA and Mice Used in SMA Research
Appendix 8. SMA Strains for Testing Site-Specific Smn Expression
Appendix 9. Functional Scales Used in SMA
Appendix 10. Select SMA Organizations Around the World
Index
CS
SP
Dr. Paushkin received his MD from the Russian State Medical University and PhD in Biochemistry from the Cardiology Research Center, Moscow. His undergraduate research was focused on the molecular basis of prion diseases, including prion protein conversion.
CK