A team of Pitt Pediatrics faculty and researchers, together with an international consortium of colleges and institutions, found that pathogenic variants in a RNA-binding protein can lead to neurodevelopmental delays and ataxia syndrome.
Led by associate professor Udai Pandey of the Pitt Pediatrics Division of Neurology and Child Development Unit and Children's Neuroscience Institute, the team determined mutations in the GEMIN5 protein negatively impact subcellular distribution, stability, and expression in patient iPSC-derived neurons. These findings show a different set of pathways and transcripts compared to SMA patient neurons.
Published May 7 in Nature Communications, the Pitt Pediatrics research team included assistant professors Deepa Soundara Rajan and Dhivyaa Rajasundaram, postdoctoral associate Sukhleen Kour, graduate student researcher Tyler R. Fortuna, postdoctoral scholar Eric N. Anderson, staff researcher Caroline Ward, and Pitt Department of Neurological Surgery assistant professor Sameer Agnihotri.
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