Outputs (22)

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.

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)
Other
JM, H., E, M., ER, S., Ö, Ç., P, P., M, D., …M, B. (2023). A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. [Preprint]

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.