Gene therapy for Spinal Muscular Atrophy: perspectives on the possibility of optimising SMN1 delivery to correct neurological and systemic perturbations
(2024)
Journal Article
Brown, S. J., Yáñez-Muñoz, R. J., & Fuller, H. R. (in press). Gene therapy for Spinal Muscular Atrophy: perspectives on the possibility of optimising SMN1 delivery to correct neurological and systemic perturbations. Neural Regeneration Research,
Outputs (25)
Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia (2024)
Journal Article
Španić Popovački, E., Vogrinc, D., Fuller, H., Langer Horvat, L., Mayer, D., Kopić, J., … Šimić, G. (2024). Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia. Biomolecules, 14(3), Article 302. https://doi.org/10.3390/biom14030302Schizophrenia is a complex mental condition, with key symptoms marked for diagnosis including delusions, hallucinations, disorganized thinking, reduced emotional expression, and social dysfunction. In the context of major developmental hypotheses of... Read More about Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.
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/ddad121Structural, 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.
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. Neuromuscular Disorders, https://doi.org/10.1016/j.nmd.2022.07.276
Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles (2022)
Journal Article
Shaqoura, E., McCallion, E., Fuller, H., & Bowerman, M. (2022). Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles. Neuromuscular Disorders, S109 - S109. https://doi.org/10.1016/j.nmd.2022.07.277
Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts (2022)
Presentation / Conference
Fuller. (2022, October). Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts. Presented at 27th International Hybrid Annual Congress of the World Muscle Society, Halifax, Nova Scotia, Canada
A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers (2022)
Journal Article
Ghanem, M., Owen, S., Mohamed, A., & Fuller, H. (2022). A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers. Cytokine, 159, Article 156011. https://doi.org/10.1016/j.cyto.2022.156011With the rising demand for improved COVID-19 disease monitoring and prognostic markers, studies have aimed to identify biomarkers using a range of screening methods. However, the selection of biomarkers for validation from large datasets may result i... Read More about A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers.
The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap (2022)
Journal Article
Owen, S., Kline, R., Synowsky, S., Shirran, S., Sillence, K., Claus, P., …Holt, I. (2022). The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap. Cells, https://doi.org/10.3390/cells11172624Most research to characterise the molecular consequences of spinal muscular atrophy (SMA) have focused on SMA I. Here, proteomic profiling of skin fibroblasts from severe (SMA I), intermediate (SMA II), and mild (SMA III) patients, alongside age-matc... Read More about The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap.
La brutal ejecución ritual vikinga denominada “águila de sangre” era anatómicamente posible (2021)
Digital Artefact
Murphy, L. J., Fuller, H., & Gates, M. (2021). La brutal ejecución ritual vikinga denominada “águila de sangre” era anatómicamente posible. [Blog Style Article]
Brutal Viking ‘blood eagle’ ritual execution was anatomically possible – new research (2021)
Digital Artefact
Murphy, L. J., Fuller, H., & Gates, M. (2021). Brutal Viking ‘blood eagle’ ritual execution was anatomically possible – new research. [Blog Style Article]
EP.350 A study of LINC complex proteins reveals temporal emerin and SUN2 expression changes during myoblast differentiation (2021)
Conference Proceeding
Storey, E., Holt, I., Morris, G., & Fuller, H. (2021). EP.350 A study of LINC complex proteins reveals temporal emerin and SUN2 expression changes during myoblast differentiation. . https://doi.org/10.1016/j.nmd.2021.07.375
Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) (2018)
Journal Article
Šoltić, D., Bowerman, M., Stock, J., Shorrock, H. K., Gillingwater, T. H., & Fuller, H. R. (2018). Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). Brain Sciences, https://doi.org/10.3390/brainsci8120212Unravelling the complex molecular pathways responsible for motor neuron degeneration in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) remains a persistent challenge. Interest is growing in the potential molecular similarities... Read More about Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA).
A systematic review and meta-analysis of the effectiveness of surgical decompression in treating patients with malignant middle cerebral artery infarction (2018)
Journal Article
Gul, W., Fuller, H., Sen, J., & Wright, H. (2018). A systematic review and meta-analysis of the effectiveness of surgical decompression in treating patients with malignant middle cerebral artery infarction. World Neurosurgery, 120, e902-e920. https://doi.org/10.1016/j.wneu.2018.08.189Background Malignant infarction of the middle-cerebral-artery (MCI) is life threatening. It is associated with a mortality as high as 80% and survival often at the expense of serious disability. Limited success of medical therapies has resulted in d... Read More about A systematic review and meta-analysis of the effectiveness of surgical decompression in treating patients with malignant middle cerebral artery infarction.
Identification of synovial fluid proteins that are associated with early osteoarthritis treatment failure: the search for novel markers leads us back to matrix metalloproteinases (MMPs) (2018)
Presentation / Conference
Hulme, C., Wilson, E., Fuller, H., Roberts, S., Richardson, J., Gallacher, P., …Wright, K. (2018, July). Identification of synovial fluid proteins that are associated with early osteoarthritis treatment failure: the search for novel markers leads us back to matrix metalloproteinases (MMPs). Poster presented at Matrix Biology Europe – July 2018 Meeting Celebrating 50 years of Federation of European Connective Tissue Societies Meetings, Manchester, United KingdomIntroduction: Autologous chondrocyte implantation (ACI) is a cell therapy used to treat cartilage defects and early osteoarthritis. During initial surgery (Stage I), healthy cartilage is harvested from the joint. Chondrocytes are isolated and culture... Read More about Identification of synovial fluid proteins that are associated with early osteoarthritis treatment failure: the search for novel markers leads us back to matrix metalloproteinases (MMPs).
Current research on SMN protein and treatment strategies for spinal muscular atrophy (2011)
Journal Article
Humphrey, E., Fuller, H. R., & Morris, G. E. (2012). Current research on SMN protein and treatment strategies for spinal muscular atrophy. Neuromuscular Disorders, 22(2), 193-197. https://doi.org/10.1016/j.nmd.2011.06.002
ApoE isoform-specific regulation of regeneration in the peripheral nervous system (2011)
Journal Article
Comley, L. H., Fuller, H. R., Wishart, T. M., Mutsaers, C. A., Thomson, D., Wright, A. K., …Gillingwater, T. H. (2011). ApoE isoform-specific regulation of regeneration in the peripheral nervous system. Human molecular genetics, 20(12), 2406-2421. https://doi.org/10.1093/hmg/ddr147Apolipoprotein E (apoE) is a 34 kDa glycoprotein with three distinct isoforms in the human population (apoE2, apoE3 and apoE4) known to play a major role in differentially influencing risk to, as well as outcome from, disease and injury in the centra... Read More about ApoE isoform-specific regulation of regeneration in the peripheral nervous system.
Treatment strategies for spinal muscular atrophy (2010)
Journal Article
Fuller, H., Barišić, M., Šešo-Šimić, Đ., Špeljko, T., Morris, G., & Šimić, G. (2010). Treatment strategies for spinal muscular atrophy. Translational Neuroscience, 1(4), 308-321. https://doi.org/10.2478/v10134-010-0045-4
SMN complexes of nucleus and cytoplasm: A proteomic study for SMA therapy (2010)
Journal Article
Fuller, H., & Morris, G. (2010). SMN complexes of nucleus and cytoplasm: A proteomic study for SMA therapy. Translational Neuroscience, 1(4), 261-267. https://doi.org/10.2478/v10134-010-0027-6
Valproate and Bone Loss: iTRAQ Proteomics Show that Valproate Reduces Collagens and Osteonectin in SMA Cells (2010)
Journal Article
Fuller, H. R., Man, N. T., Lam, L. T., Shamanin, V. A., Androphy, E. J., & Morris, G. E. (2010). Valproate and Bone Loss: iTRAQ Proteomics Show that Valproate Reduces Collagens and Osteonectin in SMA Cells. Journal of Proteome Research, 9(8), 4228-4233. https://doi.org/10.1021/pr1005263Valproate is commonly used as an anticonvulsant and mood stabilizer, but its long-term side-effects can include bone loss. As a histone deacetylase (HDAC) inhibitor, valproate has also been considered for treatment of spinal muscular atrophy (SMA). U... Read More about Valproate and Bone Loss: iTRAQ Proteomics Show that Valproate Reduces Collagens and Osteonectin in SMA Cells.
Mesenchymal stem cell-conditioned medium accelerates skin wound healing: An in vitro study of fibroblast and keratinocyte scratch assays (2010)
Journal Article
Walter, M., Wright, K., Fuller, H., MacNeil, S., & Johnson, W. (2010). Mesenchymal stem cell-conditioned medium accelerates skin wound healing: An in vitro study of fibroblast and keratinocyte scratch assays. Experimental Cell Research, 316(7), 1271-1281. https://doi.org/10.1016/j.yexcr.2010.02.026We have used in vitro scratch assays to examine the relative contribution of dermal fibroblasts and keratinocytes in the wound repair process and to test the influence of mesenchymal stem cell (MSC) secreted factors on both skin cell types. Scratch a... Read More about Mesenchymal stem cell-conditioned medium accelerates skin wound healing: An in vitro study of fibroblast and keratinocyte scratch assays.
The SMN Interactome Includes Myb-Binding Protein 1a (2009)
Journal Article
Fuller, H. R., Man, N. T., Lam, L. T., Thanh, L. T., Keough, R. A., Asperger, A., …Morris, G. E. (2010). The SMN Interactome Includes Myb-Binding Protein 1a. Journal of Proteome Research, 9(1), 556-563. https://doi.org/10.1021/pr900884gUnderstanding networks of interacting proteins is a major goal in cell biology. The survival of motor neurons protein (SMN) interacts, directly or indirectly, with a large number of other proteins and reduced levels of SMN cause the inherited disorde... Read More about The SMN Interactome Includes Myb-Binding Protein 1a.
A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy (2008)
Journal Article
thi Man, N., Humphrey, E., Lam, L. T., Fuller, H. R., Lynch, T. A., Sewry, C. A., …Morris, G. E. (2008). A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology, 71(22), 1757-1763. https://doi.org/10.1212/01.wnl.0000313038.34337.b1Objectives: Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons during early or postnatal development. Severity is variable and is inversely related to the levels of survival of motor neurons... Read More about A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy.
Absence of gemin5 from SMN complexes in nuclear Cajal bodies (2007)
Journal Article
Hao, L. T., Fuller, H. R., Lam, L. T., Le, T. T., Burghes, A. H., & Morris, G. E. (2007). Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biology, 8(1), https://doi.org/10.1186/1471-2121-8-28Background Spinal muscular atrophy is caused by reduced levels of the survival of motor neurons (SMN) protein. SMN is found in large complexes with Sm proteins and at least eight other proteins, including seven "gemins". These complexes are involved... Read More about Absence of gemin5 from SMN complexes in nuclear Cajal bodies.
IPSE/alpha-1: A major immunogenic component secreted from Schistosoma mansoni eggs (2006)
Journal Article
Schramm, G., Gronow, A., Knobloch, J., Wippersteg, V., Grevelding, C., Galle, J., …Doenhoff, M. (2006). IPSE/alpha-1: A major immunogenic component secreted from Schistosoma mansoni eggs. Molecular and Biochemical Parasitology, 147(1), 9-19. https://doi.org/10.1016/j.molbiopara.2006.01.003During infection with Schistosoma mansoni the egg stage of this parasite modulates the initial T helper (Th1) response into a Th2 response. This suggests that schistosome eggs contain factors responsible for that effect. We have recently described a... Read More about IPSE/alpha-1: A major immunogenic component secreted from Schistosoma mansoni eggs.
An enzyme-linked immunosorbent assay (ELISA) for the major crustacean allergen, tropomyosin, in food (2006)
Journal Article
Fuller, H. R., Goodwin, P. R., & Morris, G. E. (2006). An enzyme-linked immunosorbent assay (ELISA) for the major crustacean allergen, tropomyosin, in food. Food and Agricultural Immunology, 17(1), 43-52. https://doi.org/10.1080/09540100600572651Shellfish are a common cause of food reactions in hypersensitive individuals and are among the eight foods that account for over 90% of food allergies. At present, the only way to prevent these serious consequences of food allergies is to avoid the f... Read More about An enzyme-linked immunosorbent assay (ELISA) for the major crustacean allergen, tropomyosin, in food.