Publications by authors named "G Ronzitti"
Article Synopsis
- Loss-of-function mutations in the CHD8 gene are linked to Autism Spectrum Disorders (ASD), leading to significant molecular and cellular changes relevant for developing new therapies.
- Synthetic SINEUP-CHD8, a type of long non-coding RNA, can increase the production of the CHD8 protein in cells lacking it, and reverse associated negative effects in cells from patients with CHD8 mutations.
- In zebrafish models, SINEUP-CHD8 not only alleviated symptoms caused by CHD8 suppression, like macrocephaly and excessive neuron production, but also suggests potential for RNA-based treatments for various neurodevelopmental disorders.
Crigler-Najjar syndrome is an ultra-rare monogenic recessive liver disease caused by gene mutations. Complete UGT1A1 deficiency results in severe unconjugated hyperbilirubinemia in newborns that, if not treated, may lead to brain damage and death. Treatment is based on intensive phototherapy, but its efficacy decreases with age, rendering liver transplantation the only curative option.
View Article and Find Full Text PDFAdeno-associated virus (AAV) is the most widely used vector for gene transfer. A major limitation of capsid engineering is the incomplete understanding of the consequences of multiple amino acid variations on AAV capsid stability resulting in high frequency of non-viable capsids. In this context, the study of natural AAV variants can provide valuable insights into capsid regions that exhibit greater tolerance to mutations.
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- Glycogen storage disease type III (GSDIII) is a rare condition caused by a deficiency in the glycogen debranching enzyme, leading to liver issues and muscle weakness, with no current cure available.
- Previous research indicated that using two dual AAV (adeno-associated virus) vectors to deliver the GDE gene could effectively target both liver and muscle in a GSDIII mouse model.
- This study investigated the combination of rapamycin and AAV gene therapy, finding that the treatment improved outcomes by reducing immune response and enhancing the therapeutic effect, supporting further clinical applications.
Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs <1 year of age. There is no cure for IOPD.
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