Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
KCNJ13
Kir7.1
Leber congenital amaurosis (LCA)
blindness
gene-therapy
genetic disorders
induced pluripotent stem cells (iPSC)
ion-channels
loss-of-function
retinal pigment epithelium (RPE)
translational readthrough
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
07 02 2019
07 02 2019
Historique:
received:
04
09
2018
accepted:
21
12
2018
pubmed:
29
1
2019
medline:
20
11
2019
entrez:
29
1
2019
Statut:
ppublish
Résumé
Pathogenic variants of the KCNJ13 gene are known to cause Leber congenital amaurosis (LCA16), an inherited pediatric blindness. KCNJ13 encodes the Kir7.1 subunit that acts as a tetrameric, inwardly rectifying potassium ion channel in the retinal pigment epithelium (RPE) to maintain ionic homeostasis and allow photoreceptors to encode visual information. We sought to determine whether genetic approaches might be effective in treating blindness arising from pathogenic variants in KCNJ13. We derived human induced pluripotent stem cell (hiPSC)-RPE cells from an individual carrying a homozygous c.158G>A (p.Trp53
Identifiants
pubmed: 30686507
pii: S0002-9297(18)30502-0
doi: 10.1016/j.ajhg.2018.12.019
pmc: PMC6369573
pii:
doi:
Substances chimiques
KCNJ13 protein, human
0
Potassium Channels, Inwardly Rectifying
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
310-318Subventions
Organisme : NEI NIH HHS
ID : R01 EY024995
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR025011
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002373
Pays : United States
Informations de copyright
Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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