The cell microenvironment has a profound influence on the behaviour, growth and survival
of cells. The extracellular matrix (ECM) provides not only mechanical and structural support …

The unfolded protein response (UPR) has evolved to counter the stresses that occur in the
endoplasmic reticulum (ER) as a result of misfolded proteins. This sophisticated quality …

The matrilins form a family of oligomeric extracellular adaptor proteins that are most strongly
expressed in cartilage but also present in many other extracellular matrices. Matrilins bind to …

Abstract Mutant matrilin-3 (V194D) forms non-native disulphide bonded aggregates in the
rER of chondrocytes from cell and mouse models of multiple epiphyseal dysplasia (MED) …

Multiple epiphyseal dysplasia (MED) can result from mutations in matrilin-3, a structural
protein of the cartilage extracellular matrix. We have previously shown that in a mouse …

For the vast majority of the 6000 known rare disease the pathogenic mechanisms are poorly
defined and there is little treatment, leading to poor quality of life and high healthcare costs …

Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are a group of clinically
heterogeneous autosomal recessive disorders characterised by a severe quantitative …

Gastric cancer (GC) is still a vital malignant cancer across the world with unsatisfactory
prognostic results. Matrilin‐3 (MATN3) is a member of the extracellular matrix (ECM) protein …

Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by
mild short stature, joint pain, and early‐onset osteoarthropathy. Dominantly inherited …

Chondrodysplasias are a group of genetic disorders that affect the development and growth
of cartilage. These disorders can result in extreme short stature, craniofacial defects, joint …