Article
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
American journal of human genetics - 3 Jun 2021
Van Gucht Ilse, Meester Josephina A N, Bento Jotte Rodrigues, Bastiaansen Maaike, Bastianen Jarl, Luyckx Ilse, Van Den Heuvel Lotte, Neutel Cédric H G, Guns Pieter-Jan, Vermont Mandy, Fransen Erik, Perik Melanie H A M, Velchev Joe Davis, Alaerts Maaike, Schepers Dorien, Peeters Silke, Pintelon Isabel, Almesned Abdulrahman, Ferla Matteo P, Taylor Jenny C, Dallosso Anthony R, Williams Maggie, Evans Julie, Rosenfeld Jill A, Sluysmans Thierry, Rodrigues Desiderio, Chikermane Ashish, Bharmappanavara Gangadhara, Vijayakumar Kayal, Mottaghi Moghaddam Shahri Hassan, Hashemi Narges, Torbati Paria Najarzadeh, Toosi Mehran B, Al-Hassnan Zuhair N, Vogt Julie, Revencu Nicole, Maystadt Isabelle, Miller Erin M, Weaver K Nicole, Begtrup Amber, Houlden Henry, Murphy David, Maroofian Reza, Pagnamenta Alistair T, Van Laer Lut, Loeys Bart L, Verstraeten Aline
Abstract excerpt
Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-β protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowledge of the cargoes of importin 8 is limited, but TGF-β signaling components such as SMAD1-4 have been suggested to be among them. Here, we report that bi-allelic...
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