Publications by authors named "Mariapaola Izzo"
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy affecting many different body tissues, predominantly skeletal and cardiac muscles and the central nervous system. The expansion of CTG repeats in the DM1 protein-kinase () gene is the genetic cause of the disease. The pathogenetic mechanisms are mainly mediated by the production of a toxic expanded CUG transcript from the gene.
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- CRISPR/Cas9 is a cutting-edge gene-editing technology showing potential for treating incurable genetic diseases like myotonic dystrophy.
- Recent experiments in models of myotonic dystrophy type 1 (DM1) have successfully targeted and removed harmful CTG-repeat expansions, leading to improvements in disease symptoms.
- The researchers developed a strategy using specific promoters to control gene editing in selected cells, ensuring effective gene therapy while minimizing unintended changes to other parts of the genome.
Medulloblastoma (MB) is the most common malignant childhood brain tumor. About 30% of all MBs belong to the I molecular subgroup, characterized by constitutive activation of the Sonic Hedgehog (Hh) pathway. The Hh pathway is involved in several fundamental processes during embryogenesis and in adult life and its deregulation may lead to cerebellar tumorigenesis.
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