Main description:

This volume discusses the latest technologies used to study all aspects of Fragile-X Syndrome (FXS). The chapters in this book cover topics such as monitoring for epigenetic modifications at the FMR1 locus; modeling FXS with human pluripotent stem cells, mouse neural progenitors; mouse versus human-based models for FXS pre-clinical research; and Fragile-X associated with Tremor/Ataxia Syndrome (FXTAS). Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.

Cutting-edge and thorough, Fragile-X Syndrome: Methods and Protocols is a valuable tool to help scientists working towards one day developing a therapeutic solution to improve the symptoms of FXS.
Chapter "Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Contents:

Preface...Table of Contents...Contributing Authors...
Part I FXS: Full MutationAn Introduction to FXS1. Fragile-X Syndrome: IntroductionAdi Reches
Methods to Study FXS2. Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot AnalysesXiaoqiang Cal, Mohammad Arif, Haolei Wan, Ruth Kornreich, and Lisa Edelmann
3. Monitoring for Epigenetic Modifications at the FMR1 LocusSilvina Epsztejn-Litman and Rachel Eiges
4. Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related DisordersBruce E. Hayward and Karen Usdin
5. One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem CellsMeng Li, Jack Hunt, Anita Bhattacharyya, and Xinyu Zhao
6. Modeling FXS with Mouse Neural ProgenitorsUlla-Kaisa Peteri and Maija L. Castren
7. Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric DiseasesJack Hunt, Meng Li, Xinyu Zhao, and Anita Bhattacharyya
8. Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural DifferentiationLiron Kuznitsov-Yanovsky, Yoav Mayshar, and Dalit Ben-Yosef
9. Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental DisordersEvelyn J. Sauter, Lisa K. Kutsche, Simon D. Klapper, and Volker Busskamp
10. Imaging of Somatic Ca2+ Transients in Differentiated Human NeuronsIrena Vertkin and Dalit Ben-Yosef
11. Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X NeuronsMichael Telias and Menahem Segal
12. Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X SyndromeHa Eun Kong, Junghwa Lim, and Peng Jin
Human vs Mouse in Fragile-X Syndrome Research
13. Comparing Mouse and Human-Based Models for Fragile-X Syndrome Pre-Clinical ResearchMichael Telias
Part II FX PremutationFemales FX Permutation: Primary Ovarian Insufficiency14. Pathophysiology Mechanisms in Fragile-X Primary Ovarian InsufficiencyShai E. Elizur, Moran Friedman, Olga Dratviman-Storobinsky, and Yoram Cohen
FX Permutation FXTAS15. Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS)Marwa Zafarullah and Flora Tassone