The Autisms: Molecules to Model Systems

Hardcover | November 14, 2012

EditorCraig M. Powell, Lisa M. Monteggia

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The science of autism has seen tremendous breakthroughs in the past few decades. A multitude of relatively rare mutations have been identified to explain around 15 % of autism cases with many of these genetic causes systematically examined in animal models. This marriage of human genetics andbasic neurobiology has led to major advances in our understanding of how these genetic mutations alter brain function and help to better understand the human disease.These scientific approaches are leading to the identification of potential therapeutic targets for autism that can be tested in the very same genetic models and hopefully translated into novel, rational therapies. The Autisms: Molecules to Model Systems provides a roadmap to many of these geneticcauses of autism and clarifies what is known at the molecular, cellular, and circuit levels. Focusing on tractable genetic findings in human autism and painstakingly dissecting the underlying neurobiology, the book explains, is the key to understanding the pathophysiology of autism and ultimately toidentifying novel treatments.

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The science of autism has seen tremendous breakthroughs in the past few decades. A multitude of relatively rare mutations have been identified to explain around 15 % of autism cases with many of these genetic causes systematically examined in animal models. This marriage of human genetics andbasic neurobiology has led to major advances...

Craig M. Powell, M.D., Ph.D., is a Neurologist and Neuroscientist interested in the molecular, cellular, and circuit-level mechanisms underlying cognitive function and cognitive dysfunction in disorders such as autism and intellectual disability. Dr. Powell has been integrally involved in understanding brain abnormalities in genetic an...

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Format:HardcoverDimensions:416 pages, 10 × 7 × 0.98 inPublished:November 14, 2012Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199744319

ISBN - 13:9780199744312

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Table of Contents

1. Craig M. Powell and Lisa M. Monteggia: Introduction2. Lisa Joseph, Sarah Spence and Audrey: Autism and Autism Spectrum Disorders: Clinical Overview3. Mikle South, John D. Herrington, Sarah J. Patterson: Neuroimaging in Autism Spectrum Disorders Human Imaging4. Joseph D. Buxbaum: An overview of the genetics of autism spectrum disorders5. Gaston Calfa, Alan K. Percy and Lucas Pozzo-Miller: Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction6. Megumi Adachi and Lisa M. Monteggia: Mecp2 Knockout in mouse models of Rett syndrome7. Richard Paylor: Putting into perspective the use of the Fmr1 KO mouse as a model for autism spectrum disorder8. Claudia Bagni and Eric Klann: Molecular functions of the mammalian fragile X mental retardation protein: Insights into mental retardation and synaptic plasticity9. Dan Ehninger and Alcino J. Silva: Tuberous Sclerosis and Autism10. Craig M. Powell: PTEN and autism with macrocephaly11. Craig M. Powell: SHANK gene family and autism12. Geeta Sarphare, Ryan Lee, and Elaine Tierney: Smith-Lemli-Opitz Syndrome and Role of Cholesterol in Autism13. Edwin J. Weeber: Angelman Syndrome14. Craig M. Powell and Antony A. Boucard: Neuroligins and neurexins: Bridging the synaptic cleft in autism15. Cecile Pagan, Richard Delorme, Jean-Marie Launay, Thomas Bourgeron: Alterations of the serotonin-melatonin pathway in autism spectrum disorders: Biological evidence and clinical consequences16. Olga Penagarikano and Daniel H. Geschwind: CNTNAP2 and autism spectrum disorders17. David J. Wu and Carolyn Schanen: Chromosome 15q11.2q13.3 Aneusomies and Autism Spectrum Disorders18. C. Sue Carter and Suma Jacob: Oxytocin and vasopressin: Mechanisms for potential sex differences observed in ASD19. Genevieve Konopka: FOXP2: Linking language and autism