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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 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.

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..

Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy (2020)
Journal Article
Storey, E., Holt, I., Morris, G., & Fuller, H. (2020). Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 443-456. https://doi.org/10.1016/j.nmd.2020.04.002

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by the early development of muscle contractures, progressive muscle weakness, and heart abnormalities. The latter may result in serious complications, or in severe case... Read More about Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy.

Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease (2020)
Journal Article
Gómez-Gálvez, Y., Fuller, H., Synowsky, S., Shirran, L., & Gates, M. (2020). Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease. Journal of Neuroscience Research, 1417-1432. https://doi.org/10.1002/jnr.24622

There is a strong correlation between aging and onset of idiopathic Parkinson’s disease, but little is known about whether cellular changes occur during normal aging that may explain this association. Here, proteomic and bioinformatic analysis was co... Read More about Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson’s disease.

Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy (2020)
Journal Article
Šoltić, D., & Fuller, H. (2020). Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy

Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 (SMN1) gene, while less than 5% of cases are attributed to genes other than SMN. Mutations in LMNA, the lamin A/C encoding gene, cause an adult form... Read More about Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy.

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy (2019)
Journal Article
Šoltić, D., Shorrock, H. K., Allardyce, H., Wilson, E. L., Holt, I., Synowsky, S. A., …Fuller, H. (2019). Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. Human Molecular Genetics, 3515-3527. https://doi.org/10.1093/hmg/ddz195

Cardiac pathology is emerging as a prominent systemic feature of spinal muscular atrophy (SMA), but little is known about the underlying molecular pathways. Using quantitative proteomics analysis, we demonstrate widespread molecular defects in heart... Read More about Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle (2019)
Journal Article
Holt, I., Fuller, H., Lam, L., Sewry, C., Shirran, S., Zhang, Q., …Morris, G. (2019). Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle. Scientific reports, https://doi.org/10.1038/s41598-019-50728-6

Nesprins, nuclear envelope spectrin-repeat proteins encoded by the SYNE1 and SYNE2 genes, are involved in localization of nuclei. The short isoform, nesprin-1-alpha2, is required for relocation of the microtubule organizer function from centromeres t... Read More about Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.

Breast reconstruction affects coping mechanisms in breast cancer survivors. (2019)
Journal Article
Lake, B., Fuller, H., Rastall, S., & Usman, T. (2019). Breast reconstruction affects coping mechanisms in breast cancer survivors. Indian Journal of Surgery, 43-50. https://doi.org/10.1007/s12262-017-1712-1

Coping strategies used by women with breast cancer are vital for adjustment to their disease. Whilst it is clear that factors such as age at diagnosis, social support and ethnicity can influence coping mechanisms, there is currently no information ab... Read More about Breast reconstruction affects coping mechanisms in breast cancer survivors..

Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation (2018)
Journal Article
Hulme, C., Wilson, E., Fuller, H., Roberts, S., Richardson, J., Gallacher, P., …Wright, K. (2018). Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation. Arthritis Research and Therapy, 20, Article 87. https://doi.org/10.1186/s13075-018-1573-4

Background Autologous chondrocyte implantation (ACI) has a failure rate of approximately 20%, but it is yet to be fully understood why. Biomarkers are needed that can pre-operatively predict in which patients it is likely to fail, so that alternativ... Read More about Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation.

Proteomic analysis of age-related changes in ovine cerebrospinal fluid (2018)
Journal Article
Chen, C., Preston, J., Zhou, S., Fuller, H., Morgan, D., & Chen, R. (2018). Proteomic analysis of age-related changes in ovine cerebrospinal fluid. Experimental Gerontology, 108, 181-188. https://doi.org/10.1016/j.exger.2018.04.012

Cerebrospinal fluid (CSF) circulates through the brain and has a unique composition reflecting the biological processes of the brain. Identifying ageing CSF biomarkers can aid in understanding the ageing process and interpreting CSF protein changes i... Read More about Proteomic analysis of age-related changes in ovine cerebrospinal fluid.

Acute phase response signalling is altered following cartilage harvest in non-responders to Autologous Chondrocyte Implantation (2018)
Journal Article
Hulme, C., Wilson, E., Fuller, H., Roberts, S., Richardson, J., Gallacher, P., …Wright, K. (2018). Acute phase response signalling is altered following cartilage harvest in non-responders to Autologous Chondrocyte Implantation. Osteoarthritis and Cartilage, 26(S1), S167. https://doi.org/10.1016/j.joca.2018.02.363

Background: Autologous chondrocyte implantation (ACI) has a failure rate of approximately 20%, but it is yet to be fully understood why. Biomarkers are needed that can pre-operatively predict in which patients it is likely to fail, so that alternat... Read More about Acute phase response signalling is altered following cartilage harvest in non-responders to Autologous Chondrocyte Implantation.

Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis (2017)
Journal Article
Fuller, H. R., Shorrock, H. K., Gillingwater, T. H., Pigott, A., Smith, V., Kulshrestha, R., …Willis, T. A. (2017). Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis. Journal of Neuromuscular Diseases, 357-362

Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophil... Read More about Two cases of spinal muscular atrophy type II with eosinophilic oesophagitis.