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Abstract #80897 Published in IGR 20-3
How does a protein's structure spell the difference between health and disease? Our journey to understand glaucoma-associated myocilin
Lieberman RLPLoS biology 2019; 17: e3000237
Over 20 years ago, alterations to the protein myocilin were confirmed to be linked to a heritable form of the prevalent eye disease, glaucoma, and 10 years ago, my lab set out to develop a deeper understanding of myocilin in its normal and diseased state. We have made strides in understanding how genetic mutations in myocilin likely lead to disease, but unlocking myocilin's biological function is still an elusive goalpost. Is normal myocilin unimportant in the human body? Are scientists using the wrong methods to study myocilin biology? Here, I discuss my scientific journey into understanding one small part of the fascinating organ that is the eye.
Full article
Classification:
3.7 Biochemistry (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.9 Pathophysiology (Part of: 3 Laboratory methods)
