article published yes Ilaria Parenti author D93538B0-5B71-11E9-AC62-02EBE5697425 Luis E Garcia Rabaneda author 33D1B084-F248-11E8-B48F-1D18A9856A87 Hanna Schön author C8E17EDC-D7AA-11E9-B7B7-45ECE5697425 Gaia Novarino author 3E57A680-F248-11E8-B48F-1D18A9856A870000-0002-7673-7178 GaNo department Probing the Reversibility of Autism Spectrum Disorders by Employing in vivo and in vitro Models project Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function and are characterized by wide genetic and clinical variability. In this review, we discuss the multiple factors that influence the clinical presentation of NDDs, with particular attention to gene vulnerability, mutational load, and the two-hit model. Despite the complex architecture of mutational events associated with NDDs, the various proteins involved appear to converge on common pathways, such as synaptic plasticity/function, chromatin remodelers and the mammalian target of rapamycin (mTOR) pathway. A thorough understanding of the mechanisms behind these pathways will hopefully lead to the identification of candidates that could be targeted for treatment approaches. https://research-explorer.ista.ac.at/download/7957/8805/2020_TrendsNeuroscience_Parenti.pdf application/pdfno https://creativecommons.org/licenses/by/4.0/ Elsevier2020 eng 01662236 1878108X 32507511 00055309060000810.1016/j.tins.2020.05.004 438608-621 I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” <i>Trends in Neurosciences</i>, vol. 43, no. 8. Elsevier, pp. 608–621, 2020. Parenti, I., Garcia Rabaneda, L. E., Schön, H., &#38; Novarino, G. (2020). Neurodevelopmental disorders: From genetics to functional pathways. <i>Trends in Neurosciences</i>. Elsevier. <a href="https://doi.org/10.1016/j.tins.2020.05.004">https://doi.org/10.1016/j.tins.2020.05.004</a> Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. 2020. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 43(8), 608–621. I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621. Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. <i>Trends in Neurosciences</i>. 2020;43(8):608-621. doi:<a href="https://doi.org/10.1016/j.tins.2020.05.004">10.1016/j.tins.2020.05.004</a> Parenti, Ilaria, et al. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” <i>Trends in Neurosciences</i>, vol. 43, no. 8, Elsevier, 2020, pp. 608–21, doi:<a href="https://doi.org/10.1016/j.tins.2020.05.004">10.1016/j.tins.2020.05.004</a>. Parenti, Ilaria, Luis E Garcia Rabaneda, Hanna Schön, and Gaia Novarino. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” <i>Trends in Neurosciences</i>. Elsevier, 2020. <a href="https://doi.org/10.1016/j.tins.2020.05.004">https://doi.org/10.1016/j.tins.2020.05.004</a>. 79572020-06-14T22:00:49Z2025-04-14T07:41:05Z