Article

REEP6 deficiency impairs ER and Golgi morphologies and causes retinal degeneration by attenuating the expression of phototransduction proteins

2025-03-10

Abstract excerpt

REEP6 is a member of the REEP family proteins belonging to the YIP superfamily. REEP proteins were membrane proteins involved in regulating membrane curvature. Mutations in REEP6 are associated with retinitis pigmentosa (RP). Mice lacking REEP6 were generated to model human RP. Reep6 mutant mice exhibit progressive retinal degeneration, which is attributed to abnormal trafficking of PDE6 and the absent expression...

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Literature Corpus work: 44290806-0bde-5d5e-af16-22a1f7f0b809
DOI: 10.1101/2025.03.02.641069

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