Disease mechanisms and treatments

How sugars shape Marfan syndrome
Research from the University of Georgia shows that Marfan syndrome–associated fibrillin-1 mutations disrupt O glycosylation, revealing unexpected changes that may alter the protein's function in the extracellular matrix.

Glow-based assay sheds light on disease-causing mutations
University of Michigan researchers create a way to screen protein structure changes caused by mutations that may lead to new rare disease therapeutics.

A game changer in cancer kinase target profiling
A new phosphonate-tagging method improves kinase inhibitor profiling, revealing off-target effects and paving the way for safer, more precise cancer therapies tailored to individual patients. Read more about this recent MCP paper.

How scientists identified a new neuromuscular disease
NIH researchers discover Morimoto–Ryu–Malicdan syndrome, after finding shared symptoms and RFC4 gene variants in nine patients, offering hope for faster diagnosis and future treatments.

Unraveling cancer’s spaghetti proteins
MOSAIC scholar Katie Dunleavy investigates how Aurora kinase A shields oncogene c-MYC from degradation, using cutting-edge techniques to uncover new strategies targeting “undruggable” molecules.

Receptor antagonist reduces age-related bone loss in mice
Receptor antagonist reduces bone loss and promotes osteoblast activity in aging mice, highlighting its potential to treat osteoporosis. Read more about this recent JBC paper.

Omega-3 fats linked to healthy aging and improved heart metabolism
Scientists from the University of Iowa find that a diet high in polyunsaturated fatty acids from fish oil increases cardiac triglyceride uptake and improves insulin sensitivity. Read more about this recent JLR study.

RA patient blood reveals joint innerworkings
Researchers in the Netherlands use mass spectrometry to compare the proteome of plasma and synovial fluid in rheumatoid arthritis patients and find a correlation. Read more about this recent paper in Molecular & Cellular Proteomics.

Hope for a cure hangs on research
Amid drastic proposed cuts to biomedical research, rare disease families like Hailey Adkisson’s fight for survival and hope. Without funding, science can’t “catch up” to help the patients who need it most.