Outputs (15)

Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice (2018)
Journal Article
Walter, L. M., Deguise, M.-O., Meijboom, K. E., Betts, C. A., Ahlskog, N., van Westering, T. L., Hazell, G., McFall, E., Kordala, A., Hammond, S. M., Abendroth, F., Murray, L. M., Shorrock, H. K., Prosdocimo, D. A., Haldar, S. M., Jain, M. K., Gillingwater, T. H., Claus, P., Kothary, R., Wood, M. J., & Bowerman, M. (2018). Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice. EBioMedicine, 226-242. https://doi.org/10.1016/j.ebiom.2018.04.024

The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide-reaching effects on metabolic homeostasis. Spinal muscular atrophy (SMA) is a... Read More about Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice.

Therapeutic strategies for spinal muscular atrophy: SMN and beyond. (2017)
Journal Article
Ning, K., Wood, M., Bowerman, M., Becker, C., Yáñez-Muñoz, R., Gillingwater, T., Talbot, K., & SMA Research Consortium, U. (2017). Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Disease Models and Mechanisms, 943 - 954. https://doi.org/10.1242/dmm.030148

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactiva... Read More about Therapeutic strategies for spinal muscular atrophy: SMN and beyond..

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. (2017)
Journal Article
Bowerman, M., Salsac, C., Bernard, V., Soulard, C., Dionne, A., Coque, E., Benlefki, S., Hince, P., Dion, P., Butler-Browne, G., Camu, W., Bouchard, J.-P., Delpire, E., Rouleau, G., Raoul, C., & Scamps, F. (2017). KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects. Neurobiology of Disease, 106, 35 - 48. https://doi.org/10.1016/j.nbd.2017.06.013

Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss... Read More about KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects..

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. (2017)
Journal Article
Wood, M., Talbot, K., & Bowerman, M. (2017). Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Human molecular genetics, 26(R2), R151 - R159. https://doi.org/10.1093/hmg/ddx215

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal cord motor neurons, muscle atrophy and infantile death or severe disability. It is caused by severe reduction of the ubiquitously expressed survival... Read More about Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape..

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. (2016)
Journal Article
Hammond, S., Hazell, G., Shabanpoor, F., Saleh, A., Bowerman, M., Sleigh, J., Meijboom, K., Zhou, H., Muntoni, F., Talbot, K., Gait, M., & Wood, M. (2016). Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America, 113(39), 10962 - 10967. https://doi.org/10.1073/pnas.1605731113

The development of antisense oligonucleotide therapy is an important advance in the identification of corrective therapy for neuromuscular diseases, such as spinal muscular atrophy (SMA). Because of difficulties of delivering single-stranded oligonuc... Read More about Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy..