- Scienze naturali, medicina, informatica, tecnica
- Biologia
- Genetica
- From Gene to Therapeutic Target in Neuromuscular Diseases
- 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 )
eleggibile a buono
- 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
