08/21/2026
Does the DHDDS T206A mutation contribute to retinitis pigmentosa 59 on its own—or only in combination with K42E?
Researchers used knock-in mouse models carrying the mutations singly and together to examine retinal structure and function. Their results support T206A as independently pathogenic and add detail to how disruption of the dolichol-synthesis pathway can contribute to retinal degeneration.
Two DSHB antibodies—39.4D5 (RRID: AB_2314683) and PCRP-MEIS2-2B4 (RRID: AB_2618844)—helped identify and quantify losses in retinal interneurons, connecting cellular changes with functional impairment.
This is the kind of work in which careful cell identification turns a genetic result into a tissue-level story. Which retinal cell markers have been most useful in your research?
Read the story: https://dshb.biology.uiowa.edu/blog =using-dshb-antibodies-to-get-a-closer-look-at-the-genetics-of-vision-loss-