ENGLISH

Fragile-X Syndrome: Methods and Protocols

By Dalit Ben-Yosef , Yoav Mayshar

Book information

Publisher
Springer New York;Humana Press
Year
2019
ISBN
978-1-4939-9079-5, 978-1-4939-9080-1
Language
english
Format
PDF
Filesize
4 MB (4036720 bytes)
Series
Methods in Molecular Biology 1942
Edition
1st ed.
Pages
X, 192\190
Time added
2019-04-19 19:00:00
Biomedicine; Molecular Medicine; Neurology; Human

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. Front Matter ....Pages i-x Front Matter ....Pages 1-1 Fragile X Syndrome: Introduction (Adi Reches)....Pages 3-10 Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses (Xiaoqiang Cai, Mohammad Arif, Haolei Wan, Ruth Kornreich, Lisa J. Edelmann)....Pages 11-27 Monitoring for Epigenetic Modifications at the FMR1 Locus (Silvina Epsztejn-Litman, Rachel Eiges)....Pages 29-48 Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders (Bruce E. Hayward, Karen Usdin)....Pages 49-59 One-Step Generation of Seamless Luciferase Gene Knockin Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells (Meng Li, Jack Faro Vander Stoep Hunt, Anita Bhattacharyya, Xinyu Zhao)....Pages 61-69 Modeling FXS with Mouse Neural Progenitors (Ulla-Kaisa Peteri, Maija L. Castrén)....Pages 71-78 Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases (Jack Faro Vander Stoep Hunt, Meng Li, Xinyu Zhao, Anita Bhattacharyya)....Pages 79-88 Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation (Liron Kuznitsov-Yanovsky, Yoav Mayshar, Dalit Ben-Yosef)....Pages 89-100 Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders (Evelyn J. Sauter, Lisa K. Kutsche, Simon D. Klapper, Volker Busskamp)....Pages 101-121 Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons (Irena Vertkin, Dalit Ben-Yosef)....Pages 123-129 Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons (Michael Telias, Menahem Segal)....Pages 131-139 Application of Drosophila Model Toward Understanding the Molecular Basis of Fragile X Syndrome (Ha Eun Kong, Junghwa Lim, Peng Jin)....Pages 141-153 Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- and Human-Based Models (Michael Telias)....Pages 155-162 Front Matter ....Pages 163-163 Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency (Shai E. Elizur, Moran Friedman Gohas, Olga Dratviman-Storobinsky, Yoram Cohen)....Pages 165-171 Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) (Marwa Zafarullah, Flora Tassone)....Pages 173-189 Back Matter ....Pages 191-192

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