Article
TULP1 missense mutations cause variable retinal phenotypes and activation of the endoplasmic reticulum unfolded protein response pathway.
Human molecular genetics - 10 Feb 2026
Jiang Ke, Sinha Satyabrata, Bonilha Vera L, Yu Minzhong, Peachey Neal S, Hagstrom Stephanie A
Abstract excerpt
Mutations in TULP1 are associated with early-onset forms of inherited retinal degenerations (IRDs). Evidence from Tulp1-/- mice indicates that TULP1 plays a role in photoreceptor protein trafficking. Here we generated two novel knock-in mouse models, each expressing the ortholog to a human IRD-causing homozygous missense TULP1 mutation to: 1) better recapitulate IRD patients' gene dosage and spatiotemporal...
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