Outputs (2)

Gene therapy for Spinal Muscular Atrophy: perspectives on the possibility of optimising SMN1 delivery to correct neurological and systemic perturbations (2024)
Journal Article
Brown, S. J., Yáñez-Muñoz, R. J., & Fuller, H. R. (in press). Gene therapy for Spinal Muscular Atrophy: perspectives on the possibility of optimising SMN1 delivery to correct neurological and systemic perturbations. Neural Regeneration Research,

Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells (2024)
Journal Article
Storey, E., Holt, I., Brown, S., Synowsky, S., Shirran, S., & Fuller, H. (2024). Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells. Neuromuscular Disorders, 38, 26-41. https://doi.org/10.1016/j.nmd.2024.03.006

LMNA-related congenital muscular dystrophy (L-CMD) is caused by mutations in the LMNA gene, encoding lamin A/C. To further understand the molecular mechanisms of L-CMD, proteomic profiling using DIA mass spectrometry was conducted on immortalized myo... Read More about Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.