A CRISPR/TALEN-mediated gene editing approach for the Frataxin gene - Zaccagnino, Silvia
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Friedreich's ataxia (FRDA) is an autosomal recessive inherited disease that causes progressive neurodegeneration. It is caused by reduced expression of the mitochondrial protein frataxin (FXN). To follow the depletion of FXN linking with the disease chronological progression at cellular level and thus to discriminate causative mechanisms from secondary effects, a new cellular model was developed by Pastore's team in order to follow the effects of FXN depletion in a time controlled manner. The model was carried out using a human cell line in which an exogenous inducible gene was introduced to…mehr

Produktbeschreibung
Friedreich's ataxia (FRDA) is an autosomal recessive inherited disease that causes progressive neurodegeneration. It is caused by reduced expression of the mitochondrial protein frataxin (FXN). To follow the depletion of FXN linking with the disease chronological progression at cellular level and thus to discriminate causative mechanisms from secondary effects, a new cellular model was developed by Pastore's team in order to follow the effects of FXN depletion in a time controlled manner. The model was carried out using a human cell line in which an exogenous inducible gene was introduced to rescue the cells from the knocked out endogenous FXN gene. The knockout was achieved by using two gene-editing platforms: the Transcription Activator-Like Effector Nucleases (TALENs) and the Clustered Regularly Interspaced Short Palindromic Repeats/Cas9 (CRISPR/Cas9). To enable successful knockout of FXN gene via Homologous Recombination a targeting construct was used. The goal of my project was to obtain the tools necessary to enable the knockout of FXN gene.
  • Produktdetails
  • Verlag: Edizioni Accademiche Italiane
  • Seitenzahl: 88
  • Erscheinungstermin: 17. März 2017
  • Englisch
  • Abmessung: 220mm x 150mm x 5mm
  • Gewicht: 150g
  • ISBN-13: 9783330776647
  • ISBN-10: 3330776641
  • Artikelnr.: 48042977
Autorenporträt
Silvia Zaccagnino laureata in Chimica e Tecnologia Farmaceutiche presso l'Università di Torino, ha svolto la tesi nel National Institute for Medical Research di Londra, contribuendo ad un progetto di ricerca sulla Atassia di Friedreich, malattia autosomica recessiva. Nel corso dei sui studi ha preso parte a progetti Erasmus in Spagna e Francia.