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.
From Gene to Therapeutic Target in Neuromuscular Diseases: A translational approach for diseases of the motor unit di Carlo Rinaldi mobi
Leggere online libro in italiano From Gene to Therapeutic Target in Neuromuscular Diseases: A translational approach for diseases of the motor unit
Scaricare From Gene to Therapeutic Target in Neuromuscular Diseases: A translational approach for diseases of the motor unit doc eBook
From Gene to Therapeutic Target in Neuromuscular Diseases: A translational approach for diseases of the motor unit leggere online ebook
No comments:
Post a Comment
Note: Only a member of this blog may post a comment.