Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for prima...
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
About this item
Full title
Author / Creator
McGregor, Tracy L , Hunt, Karen A , Yee, Elaine , Mason, Dan , Nioi, Paul , Ticau, Simina , Pelosi, Marissa , Loken, Perry R , Finer, Sarah , Lawlor, Deborah A , Fauman, Eric B , Huang, Qin Qin , Griffiths, Christopher J , MacArthur, Daniel G , Trembath, Richard C , Oglesbee, Devin , Lieske, John C , Erbe, David V , Wright, John and van Heel, David A
Publisher
England: eLife Science Publications, Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: eLife Science Publications, Ltd
Subjects
More information
Scope and Contents
Contents
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 hyperoxaluria type 1. Her plasma glycolate levels were 12 ti...
Alternative Titles
Full title
Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria
Authors, Artists and Contributors
Author / Creator
Hunt, Karen A
Yee, Elaine
Mason, Dan
Nioi, Paul
Ticau, Simina
Pelosi, Marissa
Loken, Perry R
Finer, Sarah
Lawlor, Deborah A
Fauman, Eric B
Huang, Qin Qin
Griffiths, Christopher J
MacArthur, Daniel G
Trembath, Richard C
Oglesbee, Devin
Lieske, John C
Erbe, David V
Wright, John
van Heel, David A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ccbbccdcb771471c98bfa8da8d56bd48
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ccbbccdcb771471c98bfa8da8d56bd48
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.54363
