
Fragile X Syndrome
From Genetics to Targeted Treatment
Description
Key Features
- Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome
- Written for academic researchers, pharmaceutical investigators, and clinicians in the field
- Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome
- Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
Readership
Researchers and clinical practitioners in neuroscience, neurology, pharmacology, genetics and genetic counseling
Table of Contents
Clinics, diagnosis, epidemiology, molecular mechanisms and models
1. The Clinical Phenotype of the Fragile X Syndrome and Related Disorders
2. Fragile X Syndrome Genetics
3. Molecular Diagnostics and Genetic Counseling in Fragile X syndrome and FMR1 associated disorders
4. Epidemiology of Fragile X Syndrome
5. Mechanisms of repeat instability in Fragile X Syndrome
6. Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells
7. Animal models - drosophila, mouse, rat and zebrafishPathways Involved
8. RNA and protein targets of FMRP
9. The mGluR Theory of Fragile X from Mice to Men
10. The GABAergic System contributions to the Fragile X Syndrome Phenotype
11. Intracellular Signaling Networks in Fragile X Syndrome: Approaches to Drug Discovery and Therapeutics
12. The Endocannabinoid System in Fragile X Syndrome
13. Glycogen synthase kinase-3: Abnormalities and therapeutic potential in Fragile X syndrome
14. Defects in Rho GTPase signaling to the spine actin cytoskeleton in FMR1 knockout mice
15. Matrix Metalloproteinases in Fragile X Syndrome
16. Ion channel dysfunction and FXS
17. Reactivation of FMR1 geneClinical trials
18. Drug discovery for targeted pharmacotherapy of Fragile X Syndrome
19. Overview of targeted double blind, placebo controlled clinical trials in Fragile X Syndrome
20. Reflections on Clinical trials in Fragile X syndrome
21. Toward better outcome measures in clinical trials
22. Fragile X Research from a Parental Perspective
Product details
- No. of pages: 498
- Language: English
- Copyright: © Academic Press 2017
- Published: May 26, 2017
- Imprint: Academic Press
- Hardcover ISBN: 9780128044612
- eBook ISBN: 9780128045077