Fragile-X Syndrome

Methods and Protocols
1. Auflage 2019
ISBN: 978-1-4939-9079-5
Verlag: Springer

Buch, Englisch, Band 1942, 192 Seiten, Format (B × H): 183 mm x 260 mm, Gewicht: 591 g

Reihe: Methods in Molecular Biology

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.

Autoren/Hrsg.

Mayshar, Yoav

Ben-Yosef, Dalit

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Neurologie, Klinische Neurowissenschaft

Inhaltsverzeichnis

Fragile-X Syndrome: Introduction.- Clinical Genetic Testing for Fragile-X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses.- Monitoring for Epigenetic Modifications at the FMR1 Locus.- Assays for Determining Repeat Number, Methylation Status and AGG Interruptions in the Fragile X-Related Disorders.- One-Step Generation of Seamless Luciferase Gene Knock-In Using CRISPR/Cas9 Genome Editing in Human Pluripotent Stem Cells.- Modeling FXS with Mouse Neural Progenitors.- Using Human Neural Progenitor Cell Models to Conduct Large-Scale Drug Screens for Neurological and Psychiatric Diseases.- Modeling FXS: Human Pluripotent Stem Cells and In Vitro Neural Differentiation.- Induced Neurons for the Study of Neurodegenerative and Neurodevelopmental Disorders.- Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons.- Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons.- Application of Drosophila Model towards Understanding the Molecular Basis of Fragile-X Syndrome.- Comparing Mouse and Human-Based Models for Fragile-X Syndrome Pre-Clinical Research.- Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency.- Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS).