Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo (2023)
Journal Article
Nafchi, N., Chilcott, E., Owen, S., Fuller, H., Bowerman, M., & Yáñez-Muñoz, R. (2023). Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo. Gene Therapy, 30, 812–825. https://doi.org/10.1038/s41434-023-00406-0

Spinal muscular atrophy (SMA) is a neuromuscular disease particularly characterised by degeneration of ventral motor neurons. Survival motor neuron (SMN) 1 gene mutations cause SMA, and gene addition strategies to replace the faulty SMN1 copy are a t... Read More about Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo.

Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study (2022)
Journal Article
Bowerman, M., O'Connor, G., Edel, L., Raquq, S., Szmurlo, A., Simpson, Z., …Baranello, G. (2023). Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. Nutrition in Clinical Practice, 38(4), 871-880. https://doi.org/10.1002/ncp.10940

Background: An increasing number of families of spinal muscular atrophy (SMA) children are incorporating an amino acid-based enteral formula into their child’s feeding regimens. Other components of the amino acidbased formula include added carbohydra... Read More about Open‐labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study.

Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth (2022)
Other
Hilaire, C., Benlefki, S., Younes, R., Challuau, D., Bernard-Marissal, N., Scamps, F., …Raoul, C. (2022). Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth

Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most common motoneuron diseases affecting adults and infants, respectively. ALS and SMA are both characterized by the selective degeneration of motoneurons. Although differ... Read More about Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth.

Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro (2020)
Journal Article
Benlefki, S., Sanchez-Vicente, A., Milla, V., Lucas, O., Soulard, C., Younes, R., …Hilaire, C. (2020). Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro. Neuroscience, 435, 33-43. https://doi.org/10.1016/j.neuroscience.2020.03.044

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects upper and lower motoneurons. Dismantlement of the neuromuscular junction (NMJ) is an early pathological hallmark of the disease whose cellular origin re... Read More about Expression of ALS-linked SOD1 mutation in motoneurons or myotubes induces differential effects on neuromuscular function in vitro.