E-Book

Cerebral Cavernous Malformations (CCM) : Methods and Protocols [electronic resource]

  • Trabalzini, Lorenza. editor , Finetti, Federica. editor , Retta, Saverio Francesco. editor
  • Springer US : Imprint: Humana
  • 2020
Cerebral Cavernous Malformations (CCM) : Methods and Protocols [electronic resource]
  • 자료유형
    단행본
  • 서명/저자사항
    Cerebral Cavernous Malformations (CCM) :Methods and Protocols[electronic resource] / edited by Lorenza Trabalzini, Federica Finetti, Saverio Francesco Retta.
  • 판차
    1st ed. 2020.
  • 발행사항
    New York, NY : Springer US : Imprint: Humana, 2020.
  • 개인저자
    Trabalzini, Lorenza., editor, Finetti, Federica., editor, Retta, Saverio Francesco., editor
  • 단체저자
    SpringerLink (Online service)
  • 형태사항
    XV, 496 p. 86 illus., 62 illus. in color. .
  • 총서명
    Methods in Molecular Biology,1064-3745 ; 2152
  • 내용주기
    From Genes and Mechanisms to Molecular-targeted Therapies: the Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease -- Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations -- Natural History, Clinical, and Surgical Management of Cavernous Malformations -- Molecular Genetics Screening of CCM patients, An Overview -- Next Generation Sequecing (NGS) Strategies for Genetic Testing and Diagnosis of Cerebral Cavernous Malformation (CCM) Disease -- Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity -- Clinical Imaging of Cerebral Cavernous Malformations: Computed Tomography and Magnetic Resonance Imaging -- Neuroradiology: Differential Diagnosis, Follow-Up, and Reporting -- Surgical Management of Brain Cavernous Malformations -- Generation of CCM Phenotype by a Human Microvascular Endothelial Model -- Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease -- Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease -- CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease -- Dissection of the Role of CCM Genes in Tubulogenesis using the Drosophila Tracheal System as a Model -- Generation and Analysis of CCM Phenotypes in C. elegans -- Generation of Transgenic Lines of Zebrafish Expressing Fluorescently-tagged CCM Proteins to Study Their Function and Subcellular Localization within the Vasculature -- Vertebrate Models to Investigate CCM Pathogenesis: The Zebrafish and Mouse Model -- Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models using Inducible Cre-LoxP Strategy -- Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain -- Identification of the KRIT1 Protein by LexA-based Yeast Two-Hybrid System -- Crystallographic Studies of the Cerebral Cavernous Malformations Proteins -- Microscopy Techniques to Investigate CCM Pathogenesis -- Preparation and Analysis of Protein Extracts to Investigate CCM Pathogenesis -- Systems Wide Analysis of CCM Signaling Complex (CSC) Alterations in CCM Deficient Models using Omics Approaches -- Study of Molecular Interactions of CCM Proteins by using a GAL4-based Yeast Two-hybrid Screening -- Study of CCM Microvascular Endothelial Phenotype by an in vitro Tubule Differentiation Model -- Bidimentional in vitro Angiogenic Assays to Study CCM Pathogenesis: Endothelial Cell Proliferation and Migration -- Measurement of Endothelial Barrier Function in Mouse Models of Cerebral Cavernous Malformations using Intravital Microscopy -- 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 -- Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence -- Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of cleaved Notch1 Intracellular Domain -- Measuring the Kinase Activity of GCKIII Proteins in vitro -- Spectrophotometric Method for Determining Glyoxalase 1 Activity in Cerebral Cavernous Malformation (CCM) Disease -- Fluorescence Analysis of Reactive Oxygen Species (ROS) in Cellular Models of Cerebral Cavernous Malformation Disease -- Small RNA Library Preparation for Profiling Small Non-coding RNAs in Patients Affected by Cavernous Malformations -- Affinity Purification and Preparation of Peptides for Mass Spectrometry from C. elegans. .
  • 일반주제명
    Molecular biology.
    Molecular Medicine
  • 기본자료 저록
    Springer eBooks
  • ISBN
    9781071606407
  • 언어
    영어

초록

This volume provides experimental approaches aimed to characterize the Cerebral Cavernous Malformations (CCM) disease and to define the cellular and molecular mechanisms underlying this pathology. Chapters are divided into four sections providing a general overview of the natural history, epidemiology, and pathogenetic mechanisms of CCM disease, describing methods currently used for diagnosis and treatment, production and analysis of distinct cellular and animal models in which CCM can be studied, and different methodological approaches to study the mechanisms underlying the CCM onset and progression. 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. Authoritative and cutting-edge, Cerebral Cavernous Malformations (CCM): Methods and Protocols aims to ensure successful results in the further study of this complex disease and its pathophysiologic correlates.

목차

Overview of Cerebral Cavernous Malformations
From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease / Saverio Francesco Retta, Andrea Perrelli, Lorenza Trabalzini, Federica Finetti
Incidence, Prevalence, and Clinical Presentation of Cerebral Cavernous Malformations / Kelly D. Flemming
Natural History, Clinical, and Surgical Management of Cavernous Malformations / Giovanni G. Vercelli, Fabio Cofano, Filippo Veneziani Santonio, Francesca Vincitorio, Francesco Zenga, Diego Garbossa

Diagnosis and Treatment of Cerebral Cavernous Malformations
Molecular Genetic Screening of CCM Patients: An Overview / Elisabeth Tournier-Lasserve
Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease / Valerio Benedetti, Elisa Pellegrino, Alfredo Brusco, Roberto Piva, Saverio Francesco Retta
Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity / Hélène Choquet, Helen Kim
Clinical Imaging of Cerebral Cavernous Malformations: Computed Tomography and Magnetic Resonance Imaging / Marc Mabray, Blaine Hart
Neuroradiology: Differential Diagnosis, Follow-Up, and Reporting / Alessandra Splendiani, Federico Bruno, Alfonso Cerase
Surgical Management of Brain Cavernous Malformations / Marco M. Fontanella, Luca Zanin, Alessandro Fiorindi, Giannantonio Spena, Federico Nicolosi, Francesco Belotti et al.

Animal and Cellular Models of Cerebral Cavernous Malformations
Generation of CCM Phenotype by a Human Microvascular Endothelial Model / Simona Delle Monache, Saverio Francesco Retta
Isolation and Purification of Mouse Brain Endothelial Cells to Study Cerebral Cavernous Malformation Disease / Preston Hale, Shady Ibrahim Soliman, Hao Sun, Miguel Alejandro Lopez-Ramirez
Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease / Luca Goitre, Claudia Fornelli, Alessia Zotta, Andrea Perrelli, Saverio Francesco Retta
CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease / Konrad Schwefel, Stefanie Spiegler, Christiane D. Much, Ute Felbor, Matthias Rath
Dissection of the Role of CCM Genes in Tubulogenesis Using the Drosophila Tracheal System as a Model / Alondra B. Schweizer Burguete, Amin S. Ghabrial
Generation and Analysis of CCM Phenotypes in C. elegans / Evelyn Popiel, William Brent Derry
Generation of Transgenic Lines of Zebrafish Expressing Fluorescently Tagged CCM Proteins to Study Their Function and Subcellular Localization Within the Vasculature / Stefan Donat, Salim Abdelilah-Seyfried
Vertebrate Models to Investigate CCM Pathogenesis: The Zebrafish and Mouse Model / Johnathan Abou-Fadel, Jun Zhang
Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models Using Inducible Cre-LoxP Strategy / Jaesung P. Choi, Xiangjian Zheng
Isolation of Cerebral Endothelial Cells from CCM1/KRIT1 Null Mouse Brain / Nicholas Nobiletti, Angela J. Glading

Cellular and Molecular Mechanisms of Cerebral Cavernous Malformations
Identification of the KRIT1 Protein by LexA-Based Yeast Two-Hybrid System / Ilya G. Serebriiskii, Mohamed Elmekawy, Erica A. Golemis
Crystallographic Studies of the Cerebral Cavernous Malformations Proteins / Oriana S. Fisher, Xiaofeng Li, Weizhi Liu, Rong Zhang, Titus J. Boggon
Microscopy Techniques to Investigate CCM Pathogenesis / Johnathan Abou-Fadel, Jun Zhang
Preparation and Analysis of Protein Extracts to Investigate CCM Pathogenesis / Johnathan Abou-Fadel, Jun Zhang
Systems Wide Analysis of CCM Signaling Complex Alterations in CCM-Deficient Models Using Omics Approaches / Johnathan Abou-Fadel, Jun Zhang
Study of Molecular Interactions of CCM Proteins by Using a GAL4-Based Yeast Two-Hybrid Screening / Federica Finetti, Lorenza Trabalzini
Study of CCM Microvascular Endothelial Phenotype by an In Vitro Tubule Differentiation Model / Simona Delle Monache, Saverio Francesco Retta
Bidimentional In Vitro Angiogenic Assays to Study CCM Pathogenesis: Endothelial Cell Proliferation and Migration / Federica Finetti, Lorenza Trabalzini
Measurement of Endothelial Barrier Function in Mouse Models of Cerebral Cavernous Malformations Using Intravital Microscopy / Angela J. Glading
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, Eva Faurobert
Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence / Saverio Marchi, Saverio Francesco Retta, Paolo Pinton
Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of Cleaved Notch1 Intracellular Domain / Sana S. Hasan, Andreas Fischer
Measuring the Kinase Activity of GCKIII Proteins In Vitro / Juan Zalvide, Cristina Almengló, Sara Vázquez, Mar García-Colomer, Miriam Sartages, Celia M. Pombo
Spectrophotometric Method for Determining Glyoxalase 1 Activity in Cerebral Cavernous Malformation (CCM) Disease / Cinzia Antognelli, Vincenzo Nicola Talesa, Saverio Francesco Retta
Fluorescence Analysis of Reactive Oxygen Species (ROS) in Cellular Models of Cerebral Cavernous Malformation Disease / Andrea Perrelli, Saverio Francesco Retta
Library Preparation for Small RNA Transcriptome Sequencing in Patients Affected by Cerebral Cavernous Malformations / Souvik Kar, Robert Geffers, Amir Samii, Helmut Bertalanffy
Affinity Purification and Preparation of Peptides for Mass Spectrometry from C. elegans / Evelyn Popiel, William Brent Derry