Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.
RNAi theraputic
genetics
genomics
glycolate
human
hyperoxaluria
knockouts
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
24 03 2020
24 03 2020
Historique:
received:
11
12
2019
accepted:
23
03
2020
pubmed:
25
3
2020
medline:
30
3
2021
entrez:
25
3
2020
Statut:
epublish
Résumé
By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of
Identifiants
pubmed: 32207686
doi: 10.7554/eLife.54363
pii: 54363
pmc: PMC7108859
doi:
pii:
Substances chimiques
Glycolates
0
glycolic acid
0WT12SX38S
Alcohol Oxidoreductases
EC 1.1.-
HAO1 protein, human
EC 1.1.3.15
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MC_UU_00011/6
Pays : United Kingdom
Organisme : Wellcome
ID : WT210561
Organisme : Medical Research Council
ID : M009017
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N024397/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome
ID : WT102627
Informations de copyright
© 2020, McGregor et al.
Déclaration de conflit d'intérêts
TM, EY, PN, ST, MP, DE employee of Alnylam Pharmaceuticals, KH, DM, PL, SF, DL, QH, CG, DM, RT, DO, JL, JW, Dv No competing interests declared, EF is affiliated with Pfizer Worldwide Research. The author has no financial interests to declare. Contributed as an individual and the work was not part of a Pfizer collaboration nor was it funded by Pfizer.
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