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Outputs (15)

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy mice Human Molecular Genetics (2023)
Journal Article
Brown, S., Šoltić, D., Synowsky, S. A., Shirran, S. L., Chilcott, E., Shorrock, H. K., Gillingwater, T. H., Yáñez-Muñoz, R. J., Schneider, B., Bowerman, M., & Fuller, H. (2023). AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy mice Human Molecular Genetics. Human Molecular Genetics, Article ddad121. https://doi.org/10.1093/hmg/ddad121

Structural, functional and molecular cardiac defects have been reported in spinal muscular atrophy (SMA) patients and mouse models. Previous quantitative proteomics analyses demonstrated widespread molecular defects in the severe Taiwanese SMA mouse... Read More about AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/- spinal muscular atrophy mice Human Molecular Genetics.

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.

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

Dystrophin involvement in peripheral circadian SRF signalling (2021)
Journal Article
Bowerman. (2021). Dystrophin involvement in peripheral circadian SRF signalling. https://doi.org/10.26508/lsa.202101014

Absence of dystrophin, an essential sarcolemmal protein required for muscle contraction, leads to the devastating muscle-wasting disease Duchenne muscular dystrophy. Dystrophin has an actin-binding domain, which binds and stabilises filamentous-(F)-a... Read More about Dystrophin involvement in peripheral circadian SRF signalling.

A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN (2020)
Journal Article
Rademacher, S., Detering, N. . T., Schüning, T., Lindner, R., Santonicola, P., Wefel, I.-M., Dehus, J., Walter, L. M., Brinkmann, H., Niewienda, A., Janek, K., Varela, M. A., Bowerman, M., Di Schiavi, E., & Claus, P. (2020). A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN. Cells, 9(11), Article 2405. https://doi.org/10.3390/cells9112405

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by decreased levels of the survival of motoneuron (SMN) protein. Post-translational mechanisms for regulation of its stability are still elusive. Thus, we aimed to identify regulatory ph... Read More about A single amino acid residue regulates PTEN-binding and stability of the Spinal Muscular Atrophy protein SMN.

Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases (2020)
Journal Article
Bowerman, M. (2020). Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases. Brain Sciences, 10(9), Article 633. https://doi.org/10.3390/brainsci10090633

Note: In lieu of an abstract, this is an excerpt from the first page.

Neurodegenerative diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and Huntington’s disease (HD), severely impact the function of neuronal cells in the brain... Read More about Recent Advances and Future Perspectives in the Development of Therapeutic Approaches for Neurodegenerative Diseases.

Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice (2020)
Journal Article
Bowerman, Ahlskog, N., Hayler, D., Krueger, A., Kubinski, S., Claus, P., M. Hammond, S., J. A. Wood, M., J. Yáñez-Muñoz, R., & Bowerman, M. (2020). Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice. Gene Therapy, 27, 505–515. https://doi.org/10.1038/s41434-020-0146-8

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the survival motor neuron (SMN) gene. While there are currently two approved gene-based therapies for SMA, availability, high cost, and differences in patient response indicat... Read More about Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice.

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., Gergely, C., Bowerman, M., Raoul, C., Scamps, F., & 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.

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy (2019)
Journal Article
Kothary, R., Deguise, M.-O., Baranello, G., Mastella, C., Beauvais, A., Michaud, J., Leone, A., Battezzati, A., Dunham, C., Selby, K., Chardon, J., McMillan, H., Huang, Y., Courtney, N., Mole, A., Kubinski, S., Claus, P., Murray, L., Gillingwater, T., Bertoli, S., …Bowerman, M. (2019). Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology, 1519-1532. https://doi.org/10.1002/acn3.50855

Objective:
Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra-neuronal involvement is increasingly recognized. The prim... Read More about Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.