Article
Retinopathy-associated inosine monophosphate dehydrogenase 1 mutations cause metabolic and filament defects in cones.
Disease models & mechanisms - 1 Oct 2025
Rutter Kaitlyn M, Giarmarco Michelle M, Truong Vivian, Wang Yekai, Eminhizer Mark, Xiang Yinxiao, Cleghorn Whitney M, Sanchez Gardenia, Burrell Anika L, Kollman Justin M, Du Jianhai, Brockerhoff Susan E
Abstract excerpt
Dominant variants in inosine monophosphate dehydrogenase 1 (IMPDH1), a key enzyme in the de novo synthesis of purine bases, cause progressive photoreceptor death, leading to blindness. To investigate the cause of degeneration, we generated the first mutant IMPDH1 animal models and expressed mutant forms of impdh1a in zebrafish cone photoreceptors. Unlike cones expressing exogenous normal impdh1a, cones containing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.