Human molecular genetics
TULP1 missense mutations cause variable retinal phenotypes and activation of the endoplasmic reticulum unfolded protein response pathway.
Ke Jiang, Satyabrata Sinha, Vera L Bonilha, Minzhong Yu, Neal S Peachey, Stephanie A Hagstrom
Published: 202610.1093/hmg/ddaf199
Abstract
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,…
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