Copertina di From Gene to Therapeutic Target in Neuromuscular Diseases
Titolo del libro:

From Gene to Therapeutic Target in Neuromuscular Diseases

A translational approach for diseases of the motor unit

Edizioni Accademiche Italiane (08.10.2015 )

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ISBN-13:

978-3-639-77412-2

ISBN-10:
3639774124
EAN:
9783639774122
Lingua del libro:
Risvolto di copertina:
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.
Casa editrice:
Edizioni Accademiche Italiane
Sito Web:
https://www.edizioni-ai.com/
Da (autore):
Carlo Rinaldi
Numero di pagine:
100
Pubblicato il:
08.10.2015
Giacenza di magazzino:
Disponibile
categoria:
Genetica
Prezzo:
49,90 €
Parole chiave:
Neuromuscular diseases, Translational science

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