Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of HAO1 (expected ~1 in 30 million outbred people). HAO1 (glycolate oxidase) silencing is the mechanism of lumasiran, an investigational RNA interference therapeutic for primary hyperoxalu...

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Bibliographic Details
Main Authors: Tracy L McGregor, Karen A Hunt, Elaine Yee, Dan Mason, Paul Nioi, Simina Ticau, Marissa Pelosi, Perry R Loken, Sarah Finer, Deborah A Lawlor, Eric B Fauman, Qin Qin Huang, Christopher J Griffiths, Daniel G MacArthur, Richard C Trembath, Devin Oglesbee, John C Lieske, David V Erbe, John Wright, David A van Heel
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2020-03-01
Series:eLife
Subjects:
knockouts
hyperoxaluria
RNAi theraputic
glycolate
Online Access:https://elifesciences.org/articles/54363

Internet

https://elifesciences.org/articles/54363

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