Cerebral cavernous malformations (CCM) : methods and protocols /: methods and protocols. (2020)

• Record Type: Book
• Further Information: Note: Edited by Lorenza Trabalzini, Federica Finetti, Saverio Francesco Retta.
• Editors: Trabalzini, Lorenza; Finetti, Federica; Retta, Saverio Francesco
• Contents: Part I: Overview of Cerebral Cavernous Malformations 1. From Genes and Mechanisms to Molecular-targeted Therapies: the Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease Saverio Francesco Retta, Federica Finetti, Andrea Perrelli, and Lorenza Trabalzini 2. Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations Kelly D. Flemming 3. Natural History, Clinical, and Surgical Management of Cavernous Malformations Giovanni G. Vercelli, Fabio Cofano, Filippo Veneziani Santonio, Francesca Vincitorio, Francesco Zenga, and Diego Garbossa Part II Diagnosis and Treatment of Cerebral Cavernous Malformations 4. Molecular Genetics Screening of CCM patients, An Overview Elisabeth Tournier-Lasserve 5. Next Generation Sequecing (NGS) Strategies for Genetic Testing and Diagnosis of Cerebral Cavernous Malformation (CCM) Disease Valerio Benedetti, Elisa Pellegrino, Alfredo Brusco, Roberto Piva, and Saverio Francesco Retta 6. Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity Hélène Choquet and Helen Kim 7. Clinical Imaging of Cerebral Cavernous Malformations: Computed Tomography and Magnetic Resonance Imaging Marc Mabray and Blaine Hart 8. Neuroradiology: Differential Diagnosis, Follow-Up, and Reporting Alessandra Splendiani, Federico Bruno, and Alfonso Cerase 9. Surgical Management of Brain Cavernous Malformations Marco M. Fontanella, Luca Zanin, Alessandro Fiorindi, Giannantonio Spena, Federico Nicolosi, Francesco Belotti, Pierpaolo Panciani, Claudio Cornali, and Francesco Doglietto Part III: Animal and Cellular Models of Cebral Cavernous Malformations 10. Generation of CCM Phenotype by a Human Microvascular Endothelial Model Simona Delle Monache and Saverio Francesco Retta 11. Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease Preston Hale, Shady Ibrahim Soliman, Hao Sun, and Miguel Alejandro Lopez-Ramirez 12. Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease Luca Goitre, Claudia Fornelli, Alessia Zotta, Andrea Perrelli, and Saverio Francesco Retta 13. CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease Konrad Schwefel, Stefanie Spiegler, Christiane D. Much, Ute Felbor, and Matthias Rath 14. Dissection of the Role of CCM Genes in Tubulogenesis using the Drosophila Tracheal System as a Model Alondra B. Schweizer Burguete and Amin S. Ghabrial 15. Generation and Analysis of CCM Phenotypes in C. elegans Evelyn Popiel and William Brent Derry 16. Generation of Transgenic Lines of Zebrafish Expressing Fluorescently-tagged CCM Proteins to Study Their Function and Subcellular Localization within the Vasculature Stefan Donat, and Salim Abdelilah-Seyfried 17. Vertebrate Models to Investigate CCM Pathogenesis: The Zebrafish and Mouse Model Johnathan Abou-Fadel and Jun Zhang 18. Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models using Inducible Cre-LoxP Strategy Jaesung P. Choi and Xiangjian Zheng 19. Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain Nicholas Nobiletti and Angela J. Glading Part IV: Cellular and Molecular Mechanisms of Cerebral Cavernous Malformations 20. Identification of the KRIT1 Protein by LexA-based Yeast Two-Hybrid System Ilya G. Serebriiskii, Mohamed Elmekawy, and Erica A. Golemis 21. Crystallographic Studies of the Cerebral Cavernous Malformations Proteins Oriana S. Fisher, Xiaofeng Li, Weizhi Liu, Rong Zhang, and Titus J. Boggon 22. Microscopy Techniques to Investigate CCM Pathogenesis Johnathan Abou-Fadel and Jun Zhang 23. Preparation and Analysis of Protein Extracts to Investigate CCM Pathogenesis Johnathan Abou-Fadel and Jun Zhang 24. Systems Wide Analysis of CCM Signaling Complex (CSC) Alterations in CCM Deficient Models using Omics Approaches Johnathan Abou-Fadel and Jun Zhang 25. Study of Molecular Interactions of CCM Proteins by using a GAL4-based Yeast Two-hybrid Screening Federica Finetti and Lorenza Trabalzini 26. Study of CCM Microvascular Endothelial Phenotype by an in vitro Tubule Differentiation Model Simona Delle Monache and Saverio Francesco Retta 27. Bidimentional in vitro Angiogenic Assays to Study CCM Pathogenesis: Endothelial Cell Proliferation and Migration Federica Finetti and Lorenza Trabalzini 28. Measurement of Endothelial Barrier Function in Mouse Models of Cerebral Cavernous Malformations using Intravital Microscopy Angela J. Glading 29. Immunofluorescence of Cell-Cell and Cell-Extracellular Matrix Adhesive Defects in in vitro Endothelial CCM Model. Juxtacrine Role of Mutant Extracellular Matrix on Wild-Type Endothelial Cells Sandra Manet, Daphné Vannier, Anne-Pascale Bouin, Justyna Lisowska, Corinne Albiges-Rizo, and Eva Faurobert 30. Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence Saverio Marchi, Saverio Francesco Retta, and Paolo Pinton 31. Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of cleaved Notch1 Intracellular Domain Sana S. Hasan and Andreas Fischer 32. Measuring the Kinase Activity of GCKIII Proteins in vitro Juan Zalvide, Cristina Almengló, Sara Vázquez, Mar García-Colomer, Miriam Sartages, and Celia M. Pombo 33. Spectrophotometric Method for Determining Glyoxalase 1 Activity in Cerebral Cavernous Malformation (CCM) Disease Cinzia Antognelli, Vincenzo Nicola Talesa, and Saverio Francesco Retta 34. Fluorescence Analysis of Reactive Oxygen Species (ROS) in Cellular Models of Cerebral Cavernous Malformation Disease Andrea Perrelli and Saverio Francesco Retta 35. Small RNA Library Preparation for Profiling Small Non-coding RNAs in Patients Affected by Cavernous Malformations Souvik Kar, Robert Geffers, Amir Samii, and Helmut Bertalanffy 36. Affinity Purification and Preparation of Peptides for Mass Spectrometry from C. elegans Evelyn Popiel and William Brent Derry.
• Publisher Details: New York, NY : Humana Press
• Publication Date: 2020
• Extent: 1 online resource (xv, 496 pages), illustrations (some color)
• Subjects: 616.8/1; Brain -- Abnormalities -- Laboratory manuals; Electronic books
• Languages: English
• ISBNs: 9781071606407; 1071606409
• Related ISBNs: 9781071606391
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed July 1, 2020).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.