Skip to main content

Research Repository

Advanced Search

Outputs (57)

Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia (2024)
Journal Article

Schizophrenia 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

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

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

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

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.

A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers (2022)
Journal Article

With 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

Most 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.

SMA - TREATMENT (2021)
Journal Article

Proteins associated with the sarcomere and costamere in hearts are dysregulated in two mouse models of spinal muscular atrophy

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. (2020)
Journal Article

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..

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

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.

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy (2019)
Journal Article

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

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.

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA) (2018)
Journal Article

Unravelling 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

Background 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

Introduction: 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).

Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation (2018)
Journal Article

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.

Acute phase response signalling is altered following cartilage harvest in non-responders to Autologous Chondrocyte Implantation (2018)
Journal Article

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.

Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo (2017)
Journal Article

Synapses are an early pathological target in many neurodegenerative diseases ranging from well-known adult onset conditions such as Alzheimer and Parkinson disease to neurodegenerative conditions of childhood such as spinal muscular atrophy (SMA) and... Read More about Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo.

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

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.

The Developing Landscape of Diagnostic and Prognostic Biomarkers for Spinal Cord Injury in Cerebrospinal Fluid and Blood (2016)
Journal Article

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

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.

Cross-Reactivity between Schistosoma mansoni Antigens and the Latex Allergen Hev b 7: Putative Implication of Cross-Reactive Carbohydrate Determinants (CCDs) (2016)
Journal Article

IgG antibodies produced by rabbits immunized against S. mansoni antigens cross-reacted with aqueous soluble constituents of a variety of allergens. The antibody cross-reactivity was largely sensitive to degradation by treatment of the target antigens... Read More about Cross-Reactivity between Schistosoma mansoni Antigens and the Latex Allergen Hev b 7: Putative Implication of Cross-Reactive Carbohydrate Determinants (CCDs).

Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation (2016)
Journal Article

Introduction: Proteomic techniques offer insights into the molecular perturbations occurring in muscular-dystrophies (MD). Revisiting published datasets can highlight conserved downstream molecular alterations, which may be worth re-assessing to dete... Read More about Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation.

Monoclonal antibody Py recognizes neurofilament heavy chain and is a selective marker for large diameter neurons in the brain Brain Structure and Function (2016)
Journal Article

Almost 30 years ago, the monoclonal antibody Py was developed to detect pyramidal neurons in the CA3 region of the rat hippocampus. The utility of this antibody quickly expanded when several groups discovered that it could be used to identify very sp... Read More about Monoclonal antibody Py recognizes neurofilament heavy chain and is a selective marker for large diameter neurons in the brain Brain Structure and Function.

Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy (2016)
Journal Article

The neuromuscular disease spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting from low levels of full-length survival motor neuron (SMN) protein. Despite having a good understanding of the underlying genetics of SM... Read More about Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy.

Anti-epileptic drugs and bone loss: phenytoin reduces pro-collagen I and alters the electrophoretic mobility of osteonectin in cultured bone cells (2016)
Journal Article

Phenytoin is an antiepileptic drug used in the management of partial and tonic-clonic seizures. In previous studies we have shown that valproate, another antiepileptic drug, reduced the amount of two key bone proteins, pro-collagen I and osteonectin... Read More about Anti-epileptic drugs and bone loss: phenytoin reduces pro-collagen I and alters the electrophoretic mobility of osteonectin in cultured bone cells.

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development (2016)
Journal Article

Spinal muscular atrophy (SMA) is an inherited neuromuscular disease primarily characterized by degeneration of spinal motor neurons, and caused by reduced levels of the SMN protein. Previous studies to understand the proteomic consequences of reduced... Read More about Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development.

Human mesenchymal stem cells stimulate EaHy926 endothelial cell migration: combined proteomic and in vitro analysis of the influence of donor-donor variability (2015)
Journal Article

Mesenchymal stem cells (MSCs) stimulate angiogenesis within a wound environment and this effect is mediated through paracrine interactions with the endothelial cells present. Here we report that human MSC-conditioned medium (n=3 donors) significantly... Read More about Human mesenchymal stem cells stimulate EaHy926 endothelial cell migration: combined proteomic and in vitro analysis of the influence of donor-donor variability.

The rat striatum responds to nigro-striatal degeneration via the increased expression of proteins associated with growth and regeneration of neuronal circuitry (2014)
Journal Article

BACKGROUND: Idiopathic Parkinson's disease is marked by degeneration of dopamine neurons projecting from the substantia nigra to the striatum. Although proteins expressed by the target striatum can positively affect the viability and growth of dopami... Read More about The rat striatum responds to nigro-striatal degeneration via the increased expression of proteins associated with growth and regeneration of neuronal circuitry.