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. 2023 Feb 9;10:1051494. doi: 10.3389/fmolb.2023.1051494

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Copyright © 2023 Minaya, Mahali, Iyer, Eteleeb, Martinez, Huang, Budde, Temple, Nana, Seeley, Spina, Grinberg, Harari and Karch.

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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Integrative analysis to identify dysregulated pathways in FTLD-Tau. (A) MAPT gene annotated with the location of the mutations used in this study. Lower left panel displays the six major isoforms expressed in the central nervous system. (B) Comparison of human iPSC-neurons carrying the MAPT mutation specific and isogenic controls served as a discovery cohort to identify genes dysregulated across the three mutations. (C) Overlap analysis between all mutants compared with control. After multiple test corrections (BY-FDR ≤ 0.05), we identified 11 commonly differentially expressed genes. (D) Functional annotation was performed using the commonly differentially expressed genes.