Publications by authors named "Jessica M Bolduc"
Am J Hum Genet
March 2023
Article Synopsis
- researchers discovered kinetin, a small molecule that can correct the ELP1 splicing defect, and have developed more effective derivatives called splicing modulator compounds (SMCs).
- The new compound PTC258 not only restores correct ELP1 splicing in mouse brains but also significantly improves survival, gait, and retinal function in mice with FD, demonstrating its potential as a therapeutic treatment.
Article Synopsis
- - Familial dysautonomia (FD) is a genetic neurodegenerative disorder caused by a mutation in the ELP1 gene, leading to reduced ELP1 protein, especially in the nervous system, which affects sensory and autonomic neurons.
- - One of the major issues for FD patients is progressive vision loss that can lead to blindness, greatly impacting their quality of life.
- - Researchers developed a new mouse model, TgFD9; IkbkapΔ20/flox, to study FD and found that a compound called BPN-15477 can correct the splicing defect in the retina, offering potential for targeted treatments.
