Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.

doi:10.1096/fj.202401977R

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Article

Emc1 is essential for vision and zebrafish photoreceptor outer segment morphogenesis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Oct 2024

McCann Tess, Sundaramurthi Husvinee, Walsh Ciara, Virdi Sanamjeet, Alvarez Yolanda, Sapetto-Rebow Beata, Collery Ross F, Carter Stephen P, Moran Ailis, Mulholland Ruth, O'Connor John J, Taylor Michael R, Rauch Nora, Starostik Margaret R, English Milton A, Swaroop Anand, Geisler Robert, Reynolds Alison L, Kennedy Breandán N

Abstract excerpt

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...

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PMID: 39360639
DOI: 10.1096/fj.202401977R

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