XPOT Deficiency causes a human disorder through impaired tRNA nuclear export
Sandra v. Hardenberg, Indra Niehaus, Anna Wiemers, Tobias Rothoeft, K. Huang, Cassidy Petree, V. Schäffer, C. Phillipe, A. L. Bruel, Klaus Warnatz, Mina Zamani, R. Ahmadi, Alireza Sedaghat, Seiamak Bahram, Sahar Sadat Sedighzadeh, , Bernd Auber
This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.
medRxiv · Feb 4, 2026 · PreprintGenetic & Genomic Medicine