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Taliansky jazyk
From Gene to Therapeutic Target in Neuromuscular Diseases
Autor: Carlo Rinaldi
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... Viac o knihe
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O knihe
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.
- Vydavateľstvo: Edizioni Accademiche Italiane
- Rok vydania: 2015
- Formát: Paperback
- Rozmer: 220 x 150 mm
- Jazyk: Taliansky jazyk
- ISBN: 9783639774122
Anglický jazyk 
