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.
Rezensionen / Stimmen
"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)
Reihe
Sprache
Verlagsort
Verlagsgruppe
Illustrationen
10
15 farbige Abbildungen, 10 s/w Abbildungen
X, 192 p. 25 illus., 15 illus. in color.
Dateigröße
ISBN-13
978-1-4939-9080-1 (9781493990801)
DOI
10.1007/978-1-4939-9080-1
Schweitzer Klassifikation
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).
