How does a protein's structure spell the difference between health and disease? Our journey to understand glaucoma-associated myocilin.

Abstract:

: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.

journal_name

PLoS Biol

journal_title

PLoS biology

authors

Lieberman RL

doi

10.1371/journal.pbio.3000237

subject

Has Abstract

pub_date

2019-04-22 00:00:00

pages

e3000237

issue

4

eissn

1544-9173

issn

1545-7885

pii

PBIOLOGY-D-18-01565

journal_volume

17

pub_type

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