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Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells (2024)
Journal Article
Storey, E., Holt, I., Brown, S., Synowsky, S., Shirran, S., & Fuller, H. (2024). Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells. Neuromuscular Disorders, 38, 26-41. https://doi.org/10.1016/j.nmd.2024.03.006

LMNA-related congenital muscular dystrophy (L-CMD) is caused by mutations in the LMNA gene, encoding lamin A/C. To further understand the molecular mechanisms of L-CMD, proteomic profiling using DIA mass spectrometry was conducted on immortalized myo... Read More about Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells.

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 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., 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.

Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary (2022)
Journal Article
Fuller, H., & Storey, E. (2022). Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary. Cells, https://doi.org/10.3390/cells11244065

Mutations in genes encoding proteins associated with the linker of nucleoskel-eton and cytoskeleton (LINC) complex within the nuclear envelope cause dif-ferent diseases with varying phenotypes including skeletal muscle, cardiac, metabolic, or nervous... Read More about Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary.

An Anatomy of the Blood Eagle: The Practicalities of Viking Torture (2022)
Journal Article
Murphy, L. J., Fuller, H. R., Willan, P. L., & Gates, M. (2022). An Anatomy of the Blood Eagle: The Practicalities of Viking Torture. Speculum, 1-39. https://doi.org/10.1086/717332

The infamous blood eagle ritual has long been controversial: did Viking-Age Nordic people really torture one another to death by severing their ribs from their spine and removing their lungs, or is it all a misunderstanding of some complicated poetry... Read More about An Anatomy of the Blood Eagle: The Practicalities of Viking Torture.

Investigation of the blood proteome in response to spinal cord injury in rodent models (2021)
Journal Article
Hulme, C. H., Fuller, H. R., Riddell, J., Shirran, S. L., Botting, C. H., Osman, A., & Wright, K. T. (2022). Investigation of the blood proteome in response to spinal cord injury in rodent models. Spinal Cord, 60(4), 320-325. https://doi.org/10.1038/s41393-021-00692-8

STUDY DESIGN: Explanatory and Mechanistic Study OBJECTIVES: A better understanding of the ‘whole-body’ response following spinal cord injury (SCI) is needed to guide future research aimed at developing novel therapeutic interventions and identifying... Read More about Investigation of the blood proteome in response to spinal cord injury in rodent models.

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. (2020)
Journal Article
Holt, I., Fuller, H. R., Schindler, R. F., Shirran, S. L., Brand, T., & Morris, G. E. (2020). An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. https://doi.org/10.1186/s12860-020-00329-3

BACKGROUND: Popeye domain-containing proteins 1 and 2 (POPDC1 and POPDC2) are transmembrane proteins involved in cyclic AMP-mediated signalling processes and are required for normal cardiac pacemaking and conduction. In order to identify novel protei... Read More about An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs..