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Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model (2024)
Journal Article
Hazell, G., McCallion, E., Ahlskog, N., Sutton, E. R., Okoh, M., Shaqoura, E. I. H., …Bowerman, M. (in press). Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model. Skeletal Muscle, 14(1), Article 23. https://doi.org/10.1186/s13395-024-00356-0

Background: Amyotrophic lateral sclerosis (ALS) is a devastating and incurable neurodegenerative disease. Accumulating evidence strongly suggests that intrinsic muscle defects exist and contribute to disease progression, including imbalances in whole... Read More about Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model.

Defining an ageing-related pathology, disease or syndrome: International Consensus Statement (2024)
Journal Article
Short, E., ICCARP, Adcock, I. M., Al-Sarireh, B., Ager, A., Ajjan, R., …Bentley, B. (in press). Defining an ageing-related pathology, disease or syndrome: International Consensus Statement. GeroScience, https://doi.org/10.1007/s11357-024-01315-9

Around the world, individuals are living longer, but an increased average lifespan does not always equate to an increased health span. With advancing age, the increased prevalence of ageing-related diseases can have a significant impact on health sta... Read More about Defining an ageing-related pathology, disease or syndrome: International Consensus Statement.

A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. (2023)
Journal Article
Hoolachan, J. M., McCallion, E., Sutton, E. R., Çetin, Ö., Pacheco-Torres, P., Dimitriadi, M., …Bowerman, M. (2024). A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. Human molecular genetics, 33(5), 400–425. https://doi.org/10.1093/hmg/ddad192

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by the reduction of survival of motor neuron (SMN) protein levels. Although three SMN-augmentation therapies are clinically approved that significantly slow down disease progres... Read More about A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models..

Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth. (2023)
Journal Article
Benlefki, S., Younes, R., Challuau, D., Bernard-Marissal, N., Hilaire, C., Scamps, F., …Raoul, C. (in press). Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth. Cellular and Molecular Biology, 69(10), 1-8. https://doi.org/10.14715/cmb/2023.69.10.1

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..

An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides (2023)
Journal Article
Selvakumaran, J., Ursu, S., Bowerman, M., Lu-Nguyen, N., Wood, M. J., Malerba, A., & Yáñez-Muñoz, R. J. (2023). An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides. Biomedicines, 11(10), Article 2700. https://doi.org/10.3390/xxxxx

The blood-brain barrier (BBB) is the specialised microvasculature system that shields the central nervous system (CNS) from potentially toxic agents. Attempts to develop therapeutic agents targeting the CNS have been hindered by the lack of predictiv... Read More about An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides.

An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides (2023)
Journal Article
Selvakumaran, J., Ursu, S., Bowerman, M., Lu-Nguyen, N., Wood, M. J., Malerba, A., & Yáñez-Muñoz, R. J. (2023). An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides. Biomedicines, 11(10), Article 2700. https://doi.org/10.3390/biomedicines11102700

The blood–brain barrier (BBB) is the specialised microvasculature system that shields the central nervous system (CNS) from potentially toxic agents. Attempts to develop therapeutic agents targeting the CNS have been hindered by the lack of predictiv... Read More about An Induced Pluripotent Stem Cell-Derived Human Blood–Brain Barrier (BBB) Model to Test the Crossing by Adeno-Associated Virus (AAV) Vectors and Antisense Oligonucleotides.

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., …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.

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.

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., …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., …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.

SMA - TREATMENT (2021)
Journal Article
Owen, S., Šoltić, D., Synowsky, S., Crompton, E., Yáñez-Muñoz, R., Schneider, B., …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.

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.

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.

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., …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., …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.