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Opis

Translational 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.

Szczegóły książki

• Pełny tytuł: From Gene to Therapeutic Target in Neuromuscular Diseases
• Podtytuł: A translational approach for diseases of the motor unit
• Autor: Rinaldi Carlo
• Język: Włoski
• Oprawa: Miękka
• Liczba stron: 100
• EAN: 9783639774122
• ISBN: 3639774124
• ID: 02839905
• Wydawca: Edizioni Accademiche Italiane
• Waga: 159 g
• Wymiary: 229 × 152 × 6 mm
• Data wydania: 08. October 2015

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