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All Outputs (9)

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. (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. Human molecular genetics, ddad192. 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., Brown, 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, 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.

Enhanced expression of the human Survival motor neuron 1 gene from a sequence-optimised cDNA transgene in vitro and in vivo (2023)
Journal Article
Nafchi, N., Chilcott, E., Owen, S., Fuller, H., Bowerman, M., & Yáñez-Muñoz, R. (in press). Enhanced expression of the human Survival motor neuron 1 gene from a sequence-optimised cDNA transgene in vitro and in vivo. Gene Therapy, 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 sequence-optimised cDNA transgene in vitro and in vivo.

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. A. M., Chilcott, E. M., Brown, S., Fuller, H. R., Bowerman, M., & Yáñez-Muñoz, R. J. (2023). Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo. Gene Therapy, 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.