Publications by authors named "Brittanie R Martin"
Article Synopsis
- Spinal Muscular Atrophy (SMA) results from the loss of the SMN1 gene, leading to muscle degeneration and loss of motor function, while the SMN2 gene is a potential target for treatment due to its presence in SMA patients.
- A new intermediate mouse model of SMA has been developed that retains a slightly more functional version of the SMN protein, designated as SMN read-through (SMN(RT)), which shows reduced disease severity and extended survival compared to severe SMA models.
- This model allows for the testing of various therapeutic strategies, both dependent and independent of SMN2, while also validating the efficacy of the SMN(RT) protein in living organisms.
