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Mutazioni della sindrome di Rett

Mutazioni della sindrome di Rett


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About the Book

In questo libro descrivo le alterazioni genetiche e molecolari associate al grave disturbo del neurosviluppo noto come sindrome di Rett (RTT), con particolare attenzione alle varianti genetiche CDKL5 o FOXG1 di questo disturbo. Attualmente la funzione e la regolazione molecolare precisa di questi geni e dei loro prodotti proteici è poco conosciuta. Il lavoro che presento in questo libro offre una visione di come le mutazioni genetiche identificate nella RTT possano essere collegate alla regolazione molecolare e funzionale della biologia sinaptica. In particolare, ho svelato come l'interazione di CDKL5 con una proteina chiave dell'impalcatura delle sinapsi eccitatorie (PSD-95) sia regolata dall'attività neuronale e come le mutazioni nel gene FOXG1 spostino l'equilibrio delle proteine sinaptiche eccitatorie/inibitorie per promuovere la formazione di sinapsi inibitorie durante lo sviluppo embrionale, il che rappresenta un indizio importante per comprendere il meccanismo della malattia della RTT.


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Product Details
  • ISBN-13: 9786206970972
  • Publisher: KS Omniscriptum Publishing
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Sub Title: alterazioni molecolari a livello delle sinapsi neuronali
  • Width: 152 mm
  • ISBN-10: 6206970973
  • Publisher Date: 26 Dec 2023
  • Height: 229 mm
  • No of Pages: 76
  • Spine Width: 5 mm
  • Weight: 172 gr


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Mutazioni della sindrome di Rett
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Mutazioni della sindrome di Rett
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