Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.
Tracy L. McGregor, Karen A. Hunt, Elaine Yee, Dan Mason, Paul Nioi, Simina Ticau, Marissa Pelosi, Perry R Loken, Sarah Finer, Debbie A. Lawlor, Eric B. Fauman, Qin Qin Huang, Chris Griffiths, Daniel G. MacArthur, Richard C. Trembath, , David A. van Heel
The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.
eLife · Mar 24, 2020Peer-reviewedGenetics