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OverviewTranslational research spans from gene identification to definition of a target for therapeutic intervention. Here two examples of a translational approach are discussed in two diseases of the motor unit: Cowchock syndrome, a X-linked neuropathy with deafness and mental retardation, and Spinal and bulbar muscular atrophy, a X-linked polyglutamine disease. In the first part, by using the means of next generation sequencing, a novel mutation in AIFM1 gene is identified in a large Italian-American family and its functional consequences on the encoded protein are investigated. In the second part, the efficacy of treatment with recombinant human IGF-1 in complex with IGFBP-3 is established in cellular and animal models of Spinal and bulbar muscular atrophy, based on the evidence that IGF-1 is able to counteract the toxicity by targeting the mutant protein, Androgen Receptor, for degradation. Full Product DetailsAuthor: Rinaldi CarloPublisher: Edizioni Accademiche Italiane Imprint: Edizioni Accademiche Italiane Dimensions: Width: 15.20cm , Height: 0.60cm , Length: 22.90cm Weight: 0.159kg ISBN: 9783639774122ISBN 10: 3639774124 Pages: 100 Publication Date: 08 October 2015 Audience: General/trade , General Format: Paperback Publisher's Status: Active Availability: In stock  We have confirmation that this item is in stock with the supplier. It will be ordered in for you and dispatched immediately. Language: Italian Table of ContentsReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |
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