All Outputs (21)

Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells (2024)
Journal Article

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

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

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

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.

P.146 Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts (2022)
Journal Article

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

Is Osteogenic Differentiation of Human Nucleus Pulposus Cells a Possibility for Biological Spinal Fusion? (2020)
Journal Article

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

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

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

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

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.

Human articular chondrocytes retain their phenotype in sustained hypoxia whilst normoxia promotes their immunomodulatory capacity (2017)
Presentation / Conference

Introduction The maintenance of chondrogenic phenotype in human articular chondrocytes grown in continuous normoxic (21% O2) and hypoxic (2% O2) conditions was assessed, with the aim of finding the best environment for culturing cells destined for ca... Read More about Human articular chondrocytes retain their phenotype in sustained hypoxia whilst normoxia promotes their immunomodulatory capacity.

Staying connected: structural integration at the intervertebral disc-vertebra interface of human lumbar spines. (2017)
Journal Article

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

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.

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

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

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.

Are umbilical cord mesenchymal stem cells advantageous over bone marrow mesenchymal stem cells for cell therapy in orthopaedics? (2014)
Conference Proceeding

Purpose: Mesenchymal Stem cells (MSC) from umbilical cords (UC) are of increasing interest for cell therapy in degenerative musculoskeletal disorders as they present little ethical consideration and are reported to contain immune privileged cells, wh... Read More about Are umbilical cord mesenchymal stem cells advantageous over bone marrow mesenchymal stem cells for cell therapy in orthopaedics?.