Category Archives: Publications
Tissue Engineering Approaches for the Study and Therapeutic Intervention in Osteoarthritis
New therapeutic targets in rare genetic skeletal diseases – an Expert Opinion review
Abstract
Full text available from Journal website here
Or download a .pdf file here: review
Mouse models in investigation of human genetic skeletal diseases – a review
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress.
Available as open access here
Or download a .pdf file here: ER stress review
Cartilage-Specific Ablation of XBP1 Signaling – research paper
Role of CHOP and genetic background in chondrodysplasia – research paper
Abstract
Mild myopathy in mouse models of skeletal diseases – research paper
Abstract
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with muscle weakness. Here we present a detailed analysis of two mouse models of the PSACH/MED disease spectrum; ΔD469 T3-COMP (PSACH) and V194D matrilin-3 (MED). In grip test experiments T3-COMP mice were weaker than wild-type littermates, whereas V194D mice behaved as controls, confirming that short-limbed dwarfism alone does not contribute to PSACH/MED-related muscle weakness. Muscles from T3-COMP mice showed an increase in centronuclear fibers at the myotendinous junction. T3-COMP tendons became more lax in cyclic testing and showed thicker collagen fibers when compared with wild-type tissue; matrilin-3 mutant tissues were indistinguishable from controls. This comprehensive study of the myopathy associated with PSACH/MED mutations enables a better understanding of the disease progression, confirms that it is genotype specific and that the limb weakness originates from muscle and tendon pathology rather than short-limbed dwarfism itself. Since some patients are primarily diagnosed with neuromuscular symptoms, this study will facilitate better awareness of the differential diagnoses that might be associated with the PSACH/MED spectrum and subsequent care of PSACH/MED patients.
The full paper can be seen here
Or downloaded here: myopathy paper