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Page 1
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.
JCI Insight. 2023 May 22;8(10):e169162. doi: 10.1172/jci.insight.169162.
JCI Insight. 2023.
PMID: 37071472
Free PMC article.
Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease.
Faber S, Roepman R.
Faber S, et al.
Genes (Basel). 2019 Jul 24;10(8):557. doi: 10.3390/genes10080557.
Genes (Basel). 2019.
PMID: 31344897
Free PMC article.
Review.
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A defective structural zipper in photoreceptors causes inherited blindness.
Faber S, Roepman R.
Faber S, et al.
PLoS Biol. 2022 Jun 17;20(6):e3001672. doi: 10.1371/journal.pbio.3001672. eCollection 2022 Jun.
PLoS Biol. 2022.
PMID: 35714125
Free PMC article.
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PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia.
Faber S, Letteboer SJF, Junger K, Butcher R, Tammana TVS, van Beersum SEC, Ueffing M, Collin RWJ, Liu Q, Boldt K, Roepman R.
Faber S, et al.
Cells. 2023 Jan 13;12(2):312. doi: 10.3390/cells12020312.
Cells. 2023.
PMID: 36672247
Free PMC article.
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