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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.

Is Osteogenic Differentiation of Human Nucleus Pulposus Cells a Possibility for Biological Spinal Fusion? (2020)
Journal Article
Roberts, S., Brown, S., Turner, S., Balain, B., & Davidson, N. (2020). Is Osteogenic Differentiation of Human Nucleus Pulposus Cells a Possibility for Biological Spinal Fusion?. Cartilage, 181- 191. https://doi.org/10.1177/1947603518754628

Objective The purpose of this study was to investigate whether a simple, biologically robust method for inducing calcification of degenerate intervertebral discs (IVD) could be developed to provide an alternative treatment for patients requiring spin... Read More about Is Osteogenic Differentiation of Human Nucleus Pulposus Cells a Possibility for Biological Spinal Fusion?.

Human Articular Chondrocytes Retain Their Phenotype in Sustained Hypoxia While Normoxia Promotes Their Immunomodulatory Potential (2019)
Journal Article
Mennan, C., Garcia, J., McCarthy, H., Owen, S., Perry, J., Wright, K., …Roberts, S. (2019). Human Articular Chondrocytes Retain Their Phenotype in Sustained Hypoxia While Normoxia Promotes Their Immunomodulatory Potential. Cartilage, 10(4), 467-479. https://doi.org/10.1177/1947603518769714

Objective To assess the phenotype of human articular chondrocytes cultured in normoxia (21% O2) or continuous hypoxia (2% O2). Design Chondrocytes were extracted from patients undergoing total knee replacement (n = 5) and cultured in ~21% (normo... Read More about Human Articular Chondrocytes Retain Their Phenotype in Sustained Hypoxia While Normoxia Promotes Their Immunomodulatory Potential.

A Preliminary Cohort Study Assessing Routine Blood Analyte Levels and Neurological Outcome after Spinal Cord Injury. (2019)
Journal Article
Brown, S., Harrington, G., Hulme, C., Morris, R., Bennett, A., Tsang, W., …Wright, K. (2020). A Preliminary Cohort Study Assessing Routine Blood Analyte Levels and Neurological Outcome after Spinal Cord Injury. Journal of Neurotrauma, 37(3), https://doi.org/10.1089/neu.2019.6495

There is increasing interest in the identification of biomarkers that could predict neurological outcome following a spinal cord injury (SCI). Although initial American Spinal Injury Association (ASIA) Impairment Scale (AIS) grade is a good indicator... Read More about A Preliminary Cohort Study Assessing Routine Blood Analyte Levels and Neurological Outcome after Spinal Cord Injury..

Cell Clusters Are Indicative of Stem Cell Activity in the Degenerate Intervertebral Disc: Can Their Properties Be Manipulated to Improve Intrinsic Repair of the Disc? (2018)
Journal Article
Brown, S., Matta, A., Gruber, H., Hanley, E., Erwin, M., Roberts, S., …Melrose, J. (2018). Cell Clusters Are Indicative of Stem Cell Activity in the Degenerate Intervertebral Disc: Can Their Properties Be Manipulated to Improve Intrinsic Repair of the Disc?. Stem Cells and Development, 147 -165. https://doi.org/10.1089/scd.2017.0213

The aim of this study was to examine the complexity of the stem cell populations in the intervertebral disc (IVD) and understand their role in disc degeneration, with a view of determining whether the resident stem cells could be developed for therap... Read More about Cell Clusters Are Indicative of Stem Cell Activity in the Degenerate Intervertebral Disc: Can Their Properties Be Manipulated to Improve Intrinsic Repair of the Disc?.

We may not be buying what the label says on the tin: a cautionary tale from a study of the influence of proteoglycans on nerve growth (2017)
Journal Article
Owen, S., Fuller, H., Jones, P., Caterson, B., Shirran, S., Botting, C., & Roberts, S. (2017). We may not be buying what the label says on the tin: a cautionary tale from a study of the influence of proteoglycans on nerve growth. International Journal of Experimental Pathology, 98(3), A4

Introduction Commercially sourced preparations of reagents are an essential tool for all our laboratory studies and are assumed to have a certain degree of purity. During a study to determine how different proteoglycan substrates might control ner... Read More about We may not be buying what the label says on the tin: a cautionary tale from a study of the influence of proteoglycans on nerve growth.

Staying connected: structural integration at the intervertebral disc-vertebra interface of human lumbar spines. (2017)
Journal Article
Owen, S., Sharp, C., Broom, N., McCall, I., Roberts, S., Wade, K., & Rodrigues, S. (2017). Staying connected: structural integration at the intervertebral disc-vertebra interface of human lumbar spines. European Spine Journal, 248 -258. https://doi.org/10.1007/s00586-016-4560-y

PURPOSE: To investigate the microscopic fibrous integration between the intervertebral disc, cartilage endplates and vertebral endplates in human lumbar spines of varying degrees of degeneration using differential interference contrast (DIC) optics.... Read More about Staying connected: structural integration at the intervertebral disc-vertebra interface of human lumbar spines..

The Developing Landscape of Diagnostic and Prognostic Biomarkers for Spinal Cord Injury in Cerebrospinal Fluid and Blood (2016)
Journal Article
Hulme, C., Brown, S., Fuller, H., Riddell, J., Osman, A., Chowdhury, J., …Wright, K. (2017). The Developing Landscape of Diagnostic and Prognostic Biomarkers for Spinal Cord Injury in Cerebrospinal Fluid and Blood. Spinal Cord, 55, 114-125. https://doi.org/10.1038/sc.2016.174

Objectives: The identification of prognostic biomarkers of spinal cord injury (SCI) will help to assign SCI patients to the correct treatment and rehabilitation regimes. Further, the detection of biomarkers that predict permanent neurological outcom... Read More about The Developing Landscape of Diagnostic and Prognostic Biomarkers for Spinal Cord Injury in Cerebrospinal Fluid and Blood.

Contaminants in Commercial Preparations of ‘Purified’ Small Leucine-Rich Proteoglycans May Distort Mechanistic Studies (2016)
Journal Article
Owen, S., Jones, P., Caterson, B., Shirran, S., Fuller, H., Botting, C., & Roberts, S. (2016). Contaminants in Commercial Preparations of ‘Purified’ Small Leucine-Rich Proteoglycans May Distort Mechanistic Studies. Bioscience Reports, https://doi.org/10.1042/BSR20160465

This paper reports the perplexing results that came about because of seriously impure commercially available reagents. Commercial reagents and chemicals are routinely ordered by scientists and are expected to have been rigorously assessed for their p... Read More about Contaminants in Commercial Preparations of ‘Purified’ Small Leucine-Rich Proteoglycans May Distort Mechanistic Studies.

Mesenchymal stromal cells derived from whole human umbilical cord exhibit similar properties to those derived from Wharton’s jelly and bone marrow (2016)
Journal Article
Mennan, C., Brown, S., McCarthy, H., Mavrogonatou, E., Kletsas, D., Garcia, J., …Roberts, S. (2016). Mesenchymal stromal cells derived from whole human umbilical cord exhibit similar properties to those derived from Wharton’s jelly and bone marrow. FEBS Open Bio, 6(11), 1054-1066. https://doi.org/10.1002/2211-5463.12104

Mesenchymal stromal cells (MSC) can be isolated from several regions of human umbilical cords, including Wharton's jelly (WJ), artery, vein or cord lining. These MSC appear to be immune privileged and are promising candidates for cell therapy. Howeve... Read More about Mesenchymal stromal cells derived from whole human umbilical cord exhibit similar properties to those derived from Wharton’s jelly and bone marrow.

Wnt-signalling in human articular chondrocytes (2015)
Journal Article
McCarthy, H., Owen, S., & Roberts, S. (2015). Wnt-signalling in human articular chondrocytes. International Journal of Experimental Pathology, 96(2), A27

Introduction Aberrant Wnt-signalling in cartilage results inchondrocyte dedifferentiation, hypertrophy, loss of type II collagen, aggrecan and glycosaminoglycans. Articular chondrocytes experience a pO2 gradient from~6% (surface) to~1% (within deeper... Read More about Wnt-signalling in human articular chondrocytes.

Biochemical composition and turnover of the extracellular matrix of the normal and degenerate intervertebral disc (2013)
Journal Article
Sivan, S. S., Hayes, A. J., Wachtel, E., Caterson, B., Merkher, Y., Maroudas, A., …Roberts, S. (2014). Biochemical composition and turnover of the extracellular matrix of the normal and degenerate intervertebral disc. European Spine Journal, 23(S3), 344-353. https://doi.org/10.1007/s00586-013-2767-8

Background The intervertebral disc (IVD) is a complex cartilaginous structure which functions to resist biomechanical loads during spinal movement. It consists of the highly viscous cartilaginous nucleus pulposus, which is surrounded laterally by a... Read More about Biochemical composition and turnover of the extracellular matrix of the normal and degenerate intervertebral disc.