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Outputs (23)

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021 (2022)
Journal Article
Detering, N. T., Zambon, A., Hensel, N., Kothary, R., Swoboda, K., Gillingwater, T. H., Baranello, G., & Bowerman. (2022). 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021. Neuromuscular Disorders, 32(8), 697-705. https://doi.org/10.1016/j.nmd.2022.06.005

Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice (2022)
Journal Article
Bowerman, Meijboom, K. E., Sutton, E. R., McCallion, E., McFall, E., Anthony, D., Edwards, B., Kubinski, S., Tapken, I., Buenermann, I., Hazell, G., Ahlskog, N., Claus, P., Davies, K. E., Kothary, R., Wood, M. J. A., & Bowerman, M. (2022). Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice. Skeletal Muscle, 12(1), 1-25. https://doi.org/10.1186/s13395-022-00301-z

Background: Spinal muscular atrophy (SMA) is a childhood neuromuscular disorder caused by depletion of the survival motor neuron (SMN) protein. SMA is characterized by the selective death of spinal cord motor neurons, leading to progressive muscle wa... Read More about Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.

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., Bowerman, M., Kothary, R., Schneider, B., L Schneider, B., & 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.

SMA - TREATMENT (2021)
Journal Article
Owen, S., Šoltić, D., Synowsky, S., Crompton, E., Yáñez-Muñoz, R., Schneider, B., Shorrock, H., Shirran, S., Gillingwater, T., Bowerman, M., & Fuller, H. (2021). SMA - TREATMENT. Neuromuscular Disorders, 31, S131-S132. https://doi.org/10.1016/j.nmd.2021.07.295

Proteins associated with the sarcomere and costamere in hearts are dysregulated in two mouse models of spinal muscular atrophy

Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy (2021)
Journal Article
Bowerman. (2021). Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy. JCI insight, 1-24. https://doi.org/10.1172/jci.insight.149446

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss of survival motor neuron (SMN) protein. While SMN restoration therapies are beneficial, they are not a cure. We aimed to identify novel treatments to alleviate muscle pathology... Read More about Combining multi-omics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy.

Dystrophin regulates peripheral circadian SRF signalling (2021)
Other
Betts, C. A., Jagannath, A., van Westering, T. L., Bowerman, M., Banerjee, S., Meng, J., Falzarano, M. S., Cravo, L., McClorey, G., Meijboom, K. E., Bhomra, A., Fang Lim, W., Rinaldi, C., Counsell, J. R., Chwalenia, K., O’Donovan, E., Saleh, A. F., Gait, M. J., Morgan, J. E., Ferlini, A., …Wood, M. J. (2021). Dystrophin regulates peripheral circadian SRF signalling

Dystrophin is a sarcolemmal protein essential for muscle contraction and maintenance, absence of which leads to the devastating muscle wasting disease Duchenne muscular dystrophy (DMD)[1, 2]. Dystrophin has an actin-binding domain [3–5], which specif... Read More about Dystrophin regulates peripheral circadian SRF signalling.

The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy (2021)
Journal Article
Watson, K. S., Boukhloufi, I., Bowerman, M., & Parson, S. H. (2021). The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy. Brain Sciences, https://doi.org/10.3390/brainsci11020131

Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by prog... Read More about The relationship between body composition, fatty acid metabolism and diet in spinal muscular atrophy.

Targeting the 5’ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy (2021)
Journal Article
Bowerman. (2021). Targeting the 5’ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Molecular Therapy - Nucleic Acids, 731-742. https://doi.org/10.1016/j.omtn.2020.12.027

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1). All patients have at least one copy of a paralog, SMN2, but a C-to-T transition in this gene results in exon 7 skipping in a maj... Read More about Targeting the 5’ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy.

Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy (2019)
Journal Article
Bowerman. (2019). Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy. Future Neurology, 14(3), https://doi.org/10.2217/fnl-2019-0006

Spinal muscular atrophy (SMA) is a childhood disorder caused by loss of the survival motor neuron (SMN) gene. Pathological hallmarks are spinal cord motor neuron death, neuromuscular junction dysfunction and muscle atrophy. The first SMN genetic ther... Read More about Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy.