Publications by authors named "Stephane Vasseur"
JCI Insight
September 2024
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder caused by the loss or mutation of the SMN1 gene, leading to muscle weakness and neuromuscular symptoms.*
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- Recent advancements in SMA treatment have introduced three new therapies, including Risdiplam and Nusinersen, but patients still face challenges like muscle fatigue and limited mobility.*
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- A study analyzing muscle tissue from Type II SMA patients revealed mitochondrial dysfunction and cellular stress, suggesting potential new targets for future combination therapies.*
Article Synopsis
- ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
- The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
- Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
Hum Gene Ther
February 2020
Article Synopsis
- * Researchers compared the effectiveness of different rAAV serotypes (1-10) through direct intramuscular injections in mice, finding that rAAV9 was the most effective.
- * They also tested AAV vectors in human muscle xenografts in mice, revealing that rAAV8 and rAAV9 worked similarly well in human muscle, establishing a model for future AAV-based therapies.
