Publications by authors named "Sara Dametti"
Article Synopsis
- Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a serious genetic disease in children caused by mutations in the IGHMBP2 gene, and currently, there is no cure available.
- Recent research on gene therapy using adeno-associated virus serotype 9 (AAV9) has shown promise in treating a similar motor neuron disorder in animal models, and tests in a SMARD1 mouse model have demonstrated that AAV9 can effectively deliver a functional IGHMBP2 gene.
- Successful outcomes from these tests included restored protein levels, improved motor function and neuromuscular health, and a significant increase in life span, which suggests that AAV9-mediated gene therapy could be a
Spinal muscular atrophy (SMA) is a primary genetic cause of infant mortality due to mutations in the Survival Motor Neuron (SMN) 1 gene. No cure is available. Antisense oligonucleotides (ASOs) aimed at increasing SMN levels from the paralogous SMN2 gene represent a possible therapeutic strategy.
View Article and Find Full Text PDFNeuronal loss is a common substrate of many neurological diseases that still lack effective treatments and highly burden lives of affected individuals. The discovery of self-renewing stem cells within the central nervous system (CNS) has opened the doors to the possibility of using the plasticity of CNS as a potential strategy for the development of regenerative therapies after injuries. The role of neural progenitor cells appears to be crucial, but insufficient in reparative processes after damage.
View Article and Find Full Text PDFPurpose: Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. It is almost invariably lethal within a few years after the onset of symptoms. No effective treatment is currently available beyond supportive care and riluzole, a putative glutamate release blocker linked to modestly prolonged survival.
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