Fragile-X Syndrome: Methods and Protocols

ISBN-13: 9781493990795 / Angielski / Twarda / 2019 / 192 str.

Ben-Yosef, Dalit

Opis

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.

Recenzje

"The main audience is basic scientists involved in laboratory medicine, but there is enough clinical information to attract the attention of clinicians. Clinical geneticists may find it interesting as the questions asked by current technology provide answers to the phenotypic clinical variances observed. Graduate students involved in fragile X syndrome would find this book essential. ... The illustrations are well selected and appropriate." (Luis F Escobar, Doody's Book Reviews, June 07, 2019)

Spis treści

Preface…

Table of Contents…

Contributing Authors…

Part I FXS: Full Mutation

An Introduction to FXS

1. Fragile-X Syndrome: Introduction

Adi Reches

Methods to Study FXS

2. Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses

Xiaoqiang Cal, Mohammad Arif, Haolei Wan, Ruth Kornreich, and Lisa Edelmann

3. Monitoring for Epigenetic Modifications at the FMR1 Locus

Silvina Epsztejn-Litman and Rachel Eiges

4. Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related Disorders

Bruce E. Hayward and Karen Usdin

5. One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells

Meng Li, Jack Hunt, Anita Bhattacharyya, and Xinyu Zhao

6. Modeling FXS with Mouse Neural Progenitors

Ulla-Kaisa Peteri and Maija L. Castrén

7. Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases

Jack Hunt, Meng Li, Xinyu Zhao, and Anita Bhattacharyya

8. Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation

Liron Kuznitsov-Yanovsky, Yoav Mayshar, and Dalit Ben-Yosef

9. Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders

Evelyn J. Sauter, Lisa K. Kutsche, Simon D. Klapper, and Volker Busskamp

10. Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons

Irena Vertkin and Dalit Ben-Yosef

11. Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons

Michael Telias and Menahem Segal

12. Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X Syndrome

Ha 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 Research

Michael Telias 

Part II FX Premutation

Females FX Permutation: Primary Ovarian Insufficiency

14. Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency

Shai E. Elizur, Moran Friedman, Olga Dratviman-Storobinsky, and Yoram Cohen

FX Permutation FXTAS

15. Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS)

Marwa Zafarullah and Flora Tassone