Article
Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa.
Gene therapy - 1 May 2022
Tucker Budd A, Burnight Erin R, Cranston Cathryn M, Ulferts Mallory J, Luse Meagan A, Westfall Trudi, Scott C Anthony, Marsden Autumn, Gibson-Corley Katherine, Wiley Luke A, Han Ian C, Slusarski Diane C, Mullins Robert F, Stone Edwin M
Abstract excerpt
By combining next generation whole exome sequencing and induced pluripotent stem cell (iPSC) technology we found that an Alu repeat inserted in exon 9 of the MAK gene results in a loss of normal MAK transcript and development of human autosomal recessive retinitis pigmentosa (RP). Although a relatively rare cause of disease in the general population, the MAK variant is enriched in individuals of Jewish ancestry....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.