[HTML][HTML] Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein

F Larsen, HO Madsen, RB Sim, C Koch… - Journal of Biological …, 2004 - ASBMB
Deficiency of human mannose-binding lectin (MBL) caused by mutations in the coding part
of the MBL2 gene is associated with increased risk and severity of infections and
autoimmunity. To study the biological consequences of MBL mutations, we expressed wild
type MBL and mutated MBL in Chinese hamster ovary cells. The normal MBL cDNA (WT
MBL-A) was cloned, and the three known natural and two artificial variants were expressed
in Chinese hamster ovary cells. When analyzed, WT MBL-A formed covalently linked higher …