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. 2021 Sep 8;14:733012. doi: 10.3389/fnmol.2021.733012

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Copyright © 2021 Ebstein, Küry, Papendorf and Krüger.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Genetic lesions identified in patients with NDD may affect any stage of the UPS pathway. UPS-related genes disrupted in NDD encode various components of the ubiquitin-conjugation system including E1 ubiquitin-activating enzymes (1), E3 ubiquitin ligases (2), Cullin-RING-type E3 ubiquitin ligases (3), proteasome subunits (4) and deubiquitinating enzymes (5), as indicated.