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From Gene To Therapeutic Target In Neuromuscular Diseases

A translational approach for diseases of the motor unit

From Gene To Therapeutic Target In Neuromuscular Diseases - Rinaldi Carlo - ISBN: 9783639774122
Prijs: € 49,90
Levertijd: 4 tot 6 werkdagen
Bindwijze: Boek
Genre: Biomedische technologie
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Beschrijving

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.

Details

Titel: From Gene To Therapeutic Target In Neuromuscular Diseases
auteur: Rinaldi Carlo
Mediatype: Boek
Taal: Italiaans
Aantal pagina's: 100
Uitgever: Edizioni Accademiche Italiane
NUR: Biomedische technologie
Afmetingen: 229 x 152 x 6
Gewicht: 159 gr
ISBN/ISBN13: 9783639774122
Intern nummer: 31783865

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