Down Syndrome : from understanding the neurobiology to therapy
著者
書誌事項
Down Syndrome : from understanding the neurobiology to therapy
（Progress in brain research, v. 197）
Elsevier, 2012
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system.
This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures.
目次
Therapeutic approaches in the improvement of cognitive performance in Down syndrome: past, present and future
Rafael de la Torre and Mara Dierssen
Genomic determinants in the phenotypic variability of Down syndrome
Audrey Letourneau and Stylianos E. Antonarakis
Intellectual disabilities, neuronal post-transcriptional RNA-metabolism and RNA-binding proteins: three actors for a complex scenario
Barbara Bardoni, Sabiha Abekhoukh, Samantha Zongaro and Mireille Melko
Aberrant epigenetic landscape in mental retardation
Sanchez-Mut JV, Huertas D. and Esteller M.
Pathways to cognitive deficits in Down syndrome
Xiaolu Sturgeon, Thanh Le, Md. Mahiuddin Ahmed and Katheleen J. Gardiner
Neurological Phenotypes for Down Syndrome across the Lifespan
Ira T. Lott, MD
Human and mouse model cognitive phenotypes in Down syndrome: Implications for assessment
Jamie O. Edgin, Gina M. Mason, Goffredina Spano, Andrea Fernandez and Lynn Nadel
Perturbation of dendritic protrusions in intellectual disability
Josien Levenga and Rob Willemsen
The in vivo Down syndrome genomic library in mouse
Yann Herault, Arnaud Duchon, Emilie Velot, Damien Marechal and Veronique Brault
Discoveries in Down Syndrome: Moving Basic Science to Clinical Care
A.M. Kleschevnikov, P.V. Belichenko, A. Salehi and C. Wu
A Sonic hedgehog (Shh) response deficit in trisomic cells may be a common denominator for multiple features of Down syndrome
Duane G. Currier, Renita C. Polk and Roger H. Reeves
Gene therapy for Down syndrome Cristina Fillat and Xavier Altafaj
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