Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.
emc1
endoplasmic reticulum
inherited retinal disease
outer segment
photoreceptor
phototransduction
unfolded protein response
vasculature
zebrafish
Journal
FASEB journal : official publication of the Federation of American Societies for Experimental Biology
ISSN: 1530-6860
Titre abrégé: FASEB J
Pays: United States
ID NLM: 8804484
Informations de publication
Date de publication:
15 Oct 2024
15 Oct 2024
Historique:
revised:
16
09
2024
received:
23
08
2024
accepted:
20
09
2024
medline:
3
10
2024
pubmed:
3
10
2024
entrez:
3
10
2024
Statut:
ppublish
Résumé
Inherited retinal diseases (IRDs) are a rare group of eye disorders characterized by progressive dysfunction and degeneration of retinal cells. In this study, we characterized the raifteirí (raf) zebrafish, a novel model of inherited blindness, identified through an unbiased ENU mutagenesis screen. A mutation in the largest subunit of the endoplasmic reticulum membrane protein complex, emc1 was subsequently identified as the causative raf mutation. We sought to elucidate the cellular and molecular phenotypes in the emc1
Identifiants
pubmed: 39360639
doi: 10.1096/fj.202401977R
doi:
Substances chimiques
Zebrafish Proteins
0
Membrane Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e70086Subventions
Organisme : Science Foundation Ireland (SFI)
ID : 20/FFP-P/8538
Organisme : Science Foundation Ireland (SFI)
ID : 04/IN3/B559
Organisme : NEI NIH HHS
ID : Z01EY000450
Pays : United States
Organisme : Marie Skłodowska-Curie Actions
ID : 666010
Informations de copyright
© 2024 The Author(s). The FASEB Journal published by Wiley Periodicals LLC on behalf of Federation of American Societies for Experimental Biology.
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